Resultados da busca - Tadahiro Mitani

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  1. 1
    Monitoring neutrophil-to-lymphocyte ratio dynamics for personalized treatment in adolescent eating disorders: a retrospective cohort study

    Monitoring neutrophil-to-lymphocyte ratio dynamics for personalized treatment in adolescent eating disorders: a retrospective cohort study por Yuta Inagawa, Kazumi Kurata, Shuntaro Obi, Y. Onuki, Yukifumi Monden, Koyuru Kurane, Rieko Furukawa, Tadahiro Mitani, Hirotaka Nakamura, Shiro Suda, Tatsuhiko Yagihashi

    Publicado em 2025
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  2. 2
    Quantitative Dynamics of Chromatin Remodeling during Germ Cell Specification from Mouse Embryonic Stem Cells

    Quantitative Dynamics of Chromatin Remodeling during Germ Cell Specification from Mouse Embryonic Stem Cells por Kazuki Kurimoto, Yukihiro Yabuta, Katsuhiko Hayashi, Hiroshi Ohta, Hiroshi Kiyonari, Tadahiro Mitani, Yoshinobu Moritoki, Kenjiro Kohri, Hiroshi Kimurâ, Takuya Yamamoto, Yuki Katou, Katsuhiko Shirahige, Mitinori Saitou

    Publicado em 2015
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  3. 3
    Exome variant discrepancies due to reference-genome differences

    Exome variant discrepancies due to reference-genome differences por Li He, Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan, Tadahiro Mitani, Zeynep Coban‐Akdemir, James R. Lupski, Eric Venner, Jennifer E. Posey, Aniko Sabo, Richard A. Gibbs

    Publicado em 2021
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  4. 4
    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability por Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah F. Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehli̇van, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary Willis, Zeynep H. Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V. Hunter, Shalini N. Jhangiani, Jawid M. Fatih, Jill A. Rosenfeld, Jennifer E. Posey, Richard A. Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R. Lupski, Michael Sacher, Nava Segev, Hákon Hákonarson, John Christodoulou

    Publicado em 2019
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  5. 5
    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

    Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder por Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stéphanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehli̇van, Jennifer N. Partlow, Jennifer E. Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M. Al Menabawy, Laila Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, D.L. Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller‐Ramey, L. Kathryn Durham, Zeynep Coban‐Akdemir, Ender Karaca, Valeria V. Orlova, Lieke Schaeken, Amir Sherafat, Shalini N. Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G. Gleeson, Christopher A. Walsh, James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian

    Publicado em 2019
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  6. 6
    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression por Davut Pehli̇van, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper Eisfeldt, Maria Pettersson, Lynn Liu, Marwan Shinawi, Virginia Kimonis, Wojciech Wiszniewski, Kyle McKenzie, Timo Roser, Angela Maria Vianna‐Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James Paul Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M.B. Carvalho

    Publicado em 2024
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  7. 7
    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

    High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population por Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gülsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tülay Tos, Gözde Yeşil, Hatip Aydın, Bilgen Bilge Geçkinli, Nursel Elçioğlu, Şükrü Candan, Özlem Sezer, Haktan Bağış Erdem, Davut Gül, Emine Demıral, Muhsin Elmas, Osman Yeşilbaş, Betül Kılıç, Serdal Güngör, Ahmet Cevdet Ceylan, Sevcan Tuğ Bozdoğan, Özge Özalp, Salih Cicek, Hüseyin Aslan, Sinem Yalçıntepe, Vehap Topçu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban‐Akdemir, Ender Karaca, Claudia M.B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehli̇van

    Publicado em 2021
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  8. 8
    Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome

    Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome por Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Claudia M.B. Carvalho, Juliana F. Mazzeu

    Publicado em 2022
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  9. 9
    Back Cover, Volume 43, Issue 7

    Back Cover, Volume 43, Issue 7 por Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Cláudia Carvalho, Juliana F. Mazzeu

    Publicado em 2022
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  10. 10
    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability por Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frédéric Tran Mau‐Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gâtinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch‐Andersen, Trine Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti‐Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello

    Publicado em 2023
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  11. 11
    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... por 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

    Publicado em 2022
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  12. 12
    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease por Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski

    Publicado em 2023
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  13. 13
    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 por 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

    Publicado em 2022
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  14. 14
    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 por 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

    Publicado em 2023
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