Որոնման արդյունքները - Monika Weisz-Hubshman

  • Ցուցադրվում են 1 - 14 արդյունքները 14
Հստակեցնել արդյունքները
  1. 1
    Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested

    Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested ‌ Lina Basel‐Vanagaite, Naama Orenstein, Keren Markus‐Bustani, Noa Ruhrman‐Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  2. 2
    De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

    De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures ‌ Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Revisão
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  3. 3
    The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics

    The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics ‌ Sen Zhao, Jefferson Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova, Mezthly Pena, Rebecca L. Maywald, Kim C. Worley, Lindsay C. Burrage, Monika Weisz Hubshman, Shamika Ketkar, William Craigen, Lisa Emrick, Tyson A. Clark, Lithwick Gila, Zohar Shipony, Christine M. Eng, Brendan Lee, Pengfei Liu

    Հրապարակվել է 2025
    Ստացեք ամբողջական տեքստը
    Pré-impressão
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  4. 4
    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum ‌ Lina Basel‐Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall‐Chaure, Naseebullah Kakar, Pola Smirin‐Yosef, Marta Vila‐Pueyo, Liora Kornreich, Hölger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik‐Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck

    Հրապարակվել է 2013
    Ստացեք ամբողջական տեքստը
    Artigo
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  5. 5
    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome

    Homozygous mutations in <scp><i>VAMP</i></scp><i>1</i> cause a presynaptic congenital myasthenic syndrome ‌ Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stéphanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  6. 6
    Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

    Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease ‌ M. Biegstraaten, Timothy M. Cox, Nadia Belmatoug, Marc Berger, Tanya Collin-Histed, Stephan vom Dahl, Maja Di Rocco, Cristina Fraga, Fiorina Giona, Pilar Giraldo, Mensuda Hasanhodžić, Derralynn Hughes, Per Ole Iversen, Aline Kiewiet, Elena Lukina, Maciej Machaczka, Theodore Marinakis, Eugen Mengel, Gregory M. Pastores, Ursula Plöckinger, Hanna Rosenbaum, J. Serratrice, Argiris Symeonidis, Jeff Szer, J. Timmerman, Anna Tylki‐Szymańska, Monika Weisz Hubshman, Dimitrios Zafeiriou, Ari Zimran, Carla E. M. Hollak

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը
    Artigo
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  7. 7
    The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

    The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing ‌ Shenglan Li, Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley, Mezthly Pena, Kim C. Worley, Lindsay C. Burrage, Monika Weisz-Hubshman, Shamika Ketkar, William J. Craigen, Gary Clark, Seema R. Lalani, Carlos A. Bacino, Keren Machol, Hsiao‐Tuan Chao, Lorraine Potocki, Lisa Emrick, Jennifer L. Sheppard, M. Nguyen, Anahita Khoramnia, Paula Patricia Hernandez, Sandesh CS. Nagamani, Zhandong Liu, Christine M. Eng, Brendan Lee, Pengfei Liu

    Հրապարակվել է 2024
    Ստացեք ամբողջական տեքստը
    Artigo
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  8. 8
    Detection of copy number variations in epilepsy using exome data

    Detection of copy number variations in epilepsy using exome data ‌ Naomi Tsuchida, Mitsuko Nakashima, Mitsuhiro Kato, Eli Heyman, Takehiko Inui, Kazuhiro Haginoya, Shoko Watanabe, Tomohiro Chiyonobu, Masafumi Morimoto, M Ohta, Akira Kumakura, Masaya Kubota, Yohei Kumagai, Shin‐ichiro Hamano, Charles Marques Lourenço, Nor Azni Yahaya, G.S. Ch'ng, Lock Hock Ngu, Aviva Fattal‐Valevski, Monika Weisz Hubshman, Naama Orenstein, Dafna Marom, Lior Cohen, Hadassah Goldberg‐Stern, Yuri Uchiyama, Eri Imagawa, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hideaki Nakajima, Hirotomo Saitsu, Satoko Miyatake, Naomichi Matsumoto

    Հրապարակվել է 2017
    Ստացեք ամբողջական տեքստը
    Artigo
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  9. 9
    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability ‌ Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang

    Հրապարակվել է 2019
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  10. 10
    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature

    Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature ‌ Parisa Hemati, Anya Revah‐Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally Ann Lynch, Sophie Colombo, Astrid Weber, Marte G. Haug, Erin L. Heinzen, Tristan T. Sands, Vinodh Narayanan, Michelle Primiano, Vimla S. Aggarwal, Francisca Millan, Shannon G. Sattler‐Holtrop, Alfonso Caro‐Llopis, Nir Pillar, Janice Baker, Rebecca Freedman, Hester Y. Kroes, Stephanie Sacharow, Nicholas Stong, Pablo Lapunzina, Michael C. Schneider, Nancy J. Mendelsohn, Amanda Singleton, Valerie Loik Ramey, Karen Wou, Alla Kuzminsky, Sandra Monfort, Monika Weisz Hubshman, Samantha Doyle, Alejandro Iglesias, Francisco Martı́nez, F. Ellis McKenzie, Carmen Orellana, Koen L.I. van Gassen, María Palomares‐Bralo, Lily Bazak, Andy Lee, Ana Bircher, Lina Basel‐Vanagaite, Maria Hafström, Gunnar Houge, David B. Goldstein, Kwame Anyane‐Yeboa

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը
    Revisão
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  11. 11
    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement ‌ Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford

    Հրապարակվել է 2024
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  12. 12
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ‌ Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը
    Artigo
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  13. 13
    Bi-allelic variants in INTS11 are associated with a complex neurological disorder

    Bi-allelic variants in INTS11 are associated with a complex neurological disorder ‌ Burak Tepe, Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers, Yuri A. Zárate, G. Bradley Schaefer, Jorge Luis Granadillo De Luque, Daniel Wegner, Benjamin Cogné, Brigitte Gilbert‐Dussardier, Xavier Le Guillou, Eric J. Wagner, Lynn Pais, Jennifer E. Neil, Ganeshwaran H. Mochida, Christopher A. Walsh, Nurit Magal, Valerie Drasinover, Mordechai Shohat, Tanya L. Schwab, C Schmitz, Karl J. Clark, Anthony L. Fine, Brendan C. Lanpher, Ralitza H. Gavrilova, Pierre Blanc, Lydie Bürglen, Alexandra Afenjar, Dora Steel, Manju A. Kurian, Prab Prabhakar, Sophie Gößwein, Nataliya Di Donato, Enrico Bertini, Michael F. Wangler, Shinya Yamamoto, Marco Tartaglia, Eric W. Klee, Hugo J. Bellen, Maria T. Acosta, Margaret P Adam, David R. Adams, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza

    Հրապարակվել է 2023
    Ստացեք ամբողջական տեքստը
    Artigo
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  14. 14
    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 ‌ 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

    Հրապարակվել է 2024
    Ստացեք ամբողջական տեքստը
    Artigo
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Որոնման գործիքներ: