檢索結果 - Ehsan Ghayoor Karimiani

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  1. 1
    Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

    Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia 由 Nynke Oosterhof, Irene J. Chang, Ehsan Ghayoor Karimiani, Laura E. Kuil, Dana M. Jensen, Ray A. M. Daza, Erica P. Young, Lee Astle, Herma C. van der Linde, Giridhar M. Shivaram, Jeroen Demmers, Caitlin S. Latimer, C. Dirk Keene, Emily Loter, Reza Maroofian, Tjakko J. van Ham, Robert F. Hevner, James T. Bennett

    出版 2019
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  2. 2
    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 由 Carola Hedberg‐Oldfors, Alexandra Abramsson, Daniel P. S. Osborn, Olof Danielsson, Afsoon Fazlinezhad, Yalda Nilipour, Laila Hübbert, Inger Nennesmo, Kittichate Visuttijai, Jaipreet Bharj, Evmorfia Petropoulou, Azza Shoreim, Barbara Vona, Najmeh Ahangari, Marcela Dávila López, Mohammad Doosti, Rakesh Kumar Banote, Reza Maroofian, Malin Edling, Mehdi Taherpour, Henrik Zetterberg, Ehsan Ghayoor Karimiani, Anders Oldfors, Yalda Jamshidi

    出版 2019
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  3. 3
    Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

    Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies 由 Mert Karakaya, Markus Storbeck, Eike A. Strathmann, Andrea Delle Vedove, Irmgard Hölker, Janine Altmueller, Leyla Naghiyeva, Lea Schmitz-Steinkrüger, Aikaterini Vezyroglou, Susanne Motameny, Salem Alawbathani, Hölger Thiele, Ayşe Polat, Derya Okur, Reza Boostani, Ehsan Ghayoor Karimiani, Gilbert Wunderlich, Didem Ardıçlı, Haluk Topaloğlu, Janbernd Kirschner, Bertold Schrank, Reza Maroofian, Ólafur Þ. Magnússon, Uluç Yiş, Peter Nürnberg, Raoul Heller, Brunhilde Wirth

    出版 2018
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  4. 4
    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

    SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects 由 Johanne Dubail, Céline Huber, Sandrine Chantepie, Stephan Sonntag, Beyhan Tüysüz, Ercan Mıhçı, Christopher T. Gordon, Elisabeth Steichen‐Gersdorf, Jeanne Amiel, Banu Nur, Irene Stolte‐Dijkstra, Albertien M. van Eerde, Koen L.I. van Gassen, Corstiaan C. Breugem, Alexander P.A. Stegmann, Caroline Lekszas, Reza Maroofian, Ehsan Ghayoor Karimiani, Arnaud Bruneel, Nathalie Seta, Arnold Münnich, Dulce Papy‐Garcia, Muriel De La Dure‐Molla, Valérie Cormier‐Daire

    出版 2018
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  5. 5
    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

    Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia 由 Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Fayçal Hentati, Maryam M. Hockley, Benedikt V. Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller‐Felber, Ege Ozkan, Sergio Padilla-López, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Züchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle

    出版 2019
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  6. 6
    Biallelic variants in KIF14 cause intellectual disability with microcephaly

    Biallelic variants in KIF14 cause intellectual disability with microcephaly 由 Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray‐Pedersen, Damir Musaev, Maha S. Zaki, Iman G. Mahmoud, Laila Selim, Amera Elbadawy, Shalini N. Jhangiani, Zeynep H. Coban Akdemir, Tomasz Gambin, Hanne Sørmo Sorte, Arvid Heiberg, Jennifer McEvoy‐Venneri, Kiely N. James, Valentina Stanley, Denice Belandres, Michel Guipponi, Federico Santoni, Najmeh Ahangari, Fatemeh Tara, Mohammad Doosti, Justyna Iwaszkiewicz, Vincent Zoete, Paul Hoff Backe, Hanan Hamamy, Joseph G. Gleeson, James R. Lupski, Ehsan Ghayoor Karimiani, Stylianos E. Antonarakis

    出版 2018
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  7. 7
    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

    Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus 由 Matias Wagner, Jonathan Lévy, Sabine Jung‐Klawitter, Somayeh Bakhtiari, Fabíola Paoli Monteiro, Reza Maroofian, Tatjana Bierhals, Maja Hempel, Monique Elmaleh, João Paulo Kitajima, Chong Ae Kim, Júlia Salomão, David J. Amor, Monica S. Cooper, Laurence Perrin, Eva Pipiras, Axel Neu, Mohammad Doosti, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Henry Houlden, Sheng Chih Jin, Yue C., Lance H. Rodan, Hanka Venselaar, Michael C. Kruer, Fernando Kok, Georg F. Hoffmann, Tim M. Strom, Saskia B. Wortmann, Anne-Claude Tabet, Thomas Opladen

    出版 2020
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  8. 8
    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy 由 Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi

    出版 2020
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  9. 9
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy 由 Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    出版 2022
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  10. 10
    A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

    A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency 由 Stefano Volpi, Maria Pia Cicalese, Paul Tuijnenburg, Anton T. J. Tool, Eloy Cuadrado, Marwan Abu-Halaweh, Hamid Ahanchian, Raed Alzyoud, Zeynep Coban‐Akdemir, Federica Barzaghi, Alexander Blank, Bertrand Boisson, Cristina Bottino, Immacolata Brigida, Roberta Caorsi, Jean‐Laurent Casanova, Sabrina Chiesa, Iván K. Chinn, Gregor Dückers, Anselm Enders, Hans Christian Erichsen, Lisa R. Forbes, Tomasz Gambin, Marco Gattorno, Ehsan Ghayoor Karimiani, Silvia Giliani, Michael S. Gold, Eva‐Maria Jacobsen, Machiel H. Jansen, Jovanka King, Ronald M. Laxer, James R. Lupski, Emily M. Mace, Stefania Marcenaro, Reza Maroofian, Alexander B. Meijer, Tim Niehues, Luigi D. Notarangelo, Jordan S. Orange, Ulrich Pannicke, Chris Pearson, Paolo Picco, Patrick Quinn, Ansgar Schulz, Filiz O. Seeborg, Asbjørg Stray‐Pedersen, Hasan Tawamie, Ester M. M. van Leeuwen, Alessandro Aiuti, Rae S. M. Yeung, Klaus Schwarz, Taco W. Kuijpers

    出版 2019
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  11. 11
    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

    TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities 由 Laura Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra Börklü, Marco Post, Nadia Bahi‐Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren, Alexandra Afenjar, Stephanie A. Coury, Wen‐Hann Tan, Renske Oegema, Linda S. de Vries, Katherine A. Fawcett, Peter G. J. Nikkels, Aida M. Bertoli‐Avella, Amal Al Hashem, Abdulmalik A. Alwabel, K. Tlili-Graiess, Stéphanie Efthymiou, Faisal Zafar, Nuzhat Rana, Farah Bibi, Henry Houlden, Reza Maroofian, Richard Person, Amy Crunk, Juliann M. Savatt, Lisbeth Turner, Mohammad Doosti, Ehsan Ghayoor Karimiani, Nebal Waill Saadi, Javad Akhondian, Maarten H. Lequin, Hülya Kayserili, Peter J. van der Spek, Anna Jansen, Johan M. Kros, Robert M. Verdijk, Nataša Jovanov Milošević, Maarten Fornerod, Pier G. Mastroberardino, Grazia M.S. Mancini

    出版 2019
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  12. 12
    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

    Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking 由 Leslie E. Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Maryam Najafi, Mohammad A. Al–Muhaizea, Hamad Alzaidan, Hesham Aldhalaan, Elena Perenthaler, Herma C. van der Linde, Anita Nikoncuk, Nikolas A. Kühn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tainá Regina Damaceno Silveira, Najim Ameziane, Arndt Rolfs, Aljohara Alharbi, Raghda M Sabbagh, Khalid AlAhmadi, Bashayer S. Alawam, Hazem Ghebeh, Aljouhra AlHargan, Anoud Albader, Faisal S. BinHumaid, Ewa Goljan, Dorota Monies, Osama M Mustafa, Mazhor Aldosary, Albandary AlBakheet, Banan Al‐Younes, Faten Almutairi, Ali Al‐Odaib, Dürdane Aksoy, A. Nazlı Başak, Robin Palvadeau, Daniah Trabzuni, Jill A. Rosenfeld, Ehsan Ghayoor Karimiani, Brian F. Meyer, Bedri Karakas, Futwan Al‐Mohanna, Stefan T. Arold, Dilek Çolak, Reza Maroofian, Henry Houlden, Aida M. Bertoli‐Avella, Miriam Schmidts, Tahsin Stefan Barakat, Tjakko J. van Ham, Namik Kaya

    出版 2021
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  13. 13
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... 由 Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    出版 2022
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  14. 14
    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

    Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases 由 Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca I. Torene, Amna Al‐Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik-Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcová, Faisal Zafar, Nuzhat Rana, Krishna Kumar Kandaswamy, Jozef Hertecant, Peter Bauer, Mohammed A. AlMuhaizea, Mustafa A. Salih, Mazhor Aldosary, Rawan Almass, Laila AlQuait, Wafa Qubbaj, Serdar Coşkun, Khaled O. Alahmadi, Muddathir H. Hamad, Salem Alwadaee, Khalid Awartani, Anas Dababo, Futwan Al‐Mohanna, Dilek Çolak, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Murat Günel, A. Gulhan Ercan‐Sencicek, Gouri Rao Passi, Huma Arshad Cheema, Stéphanie Efthymiou, Henry Houlden, Aida M. Bertoli‐Avella, Alice S. Brooks, Kyle Retterer, Reza Maroofian, Namik Kaya, Tjakko J. van Ham, Tahsin Stefan Barakat

    出版 2019
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  15. 15
    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

    Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals 由 Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gülsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yılmaz, Seda Kanmaz, Hepsen Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhaş, Tamison Jewett, Rachel Goldberg, Hanan E. Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gözde Yeşil, Esma Şengenç, Serhat Güler, Mariam Hull, Mered Parnes, Dilek Aktaş, Banu Anlar, Yavuz Bayram, Davut Pehli̇van, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama AlAbdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André EX Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto

    出版 2022
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  16. 16
    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing

    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing 由 Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden

    出版 2024
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  17. 17
    Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

    Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders 由 Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin, Maha S. Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stéphanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A. Normand, Sabine Rudnik‐Schöneborn, Ulrich A. Schatz, Marc P. Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A. Abdul–Majeed, Maria Imdad, M.O. Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehli̇van, María Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W. Taylor, Dayana Vazquez, Annalisa Vetro, Hans R. Waterham, Mashaya Zaman, Tina A. Schrader, Wendy K. Chung, Renzo Guerrini, James R. Lupski, Joseph G. Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P. Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W. Tate, Gaurav K. Varshney, Henry Houlden, Reza Maroofian

    出版 2023
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  18. 18
    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination 由 Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden

    出版 2019
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  19. 19
    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 由 Maimuna Sali Paul, Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa A. Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela Pojomovsky McDonnell, Stacey R. Cohen, Laina Lusk, Ana S.A. Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne‐Sophie Denommé‐Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, G. Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T. Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather C. Mefford, Maria T. Acosta, Margaret P Adam, David R. Adams, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo

    出版 2024
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