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1 Ergebnisse
1
De Novo Mutations in NALCN Cause a Syndrome Characterized b..:
Chong, Jessica X
;
McMillin, Margaret J
;
Shively, Kathryn M
...
qt59c5b36g. , 2015
Link:
https://escholarship.org/uc/item/59c5b36g
RT Journal T1
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt59c5b36g&Exemplar=1&LAN=DE A1 Chong, Jessica X A1 McMillin, Margaret J A1 Shively, Kathryn M A1 Beck, Anita E A1 Marvin, Colby T A1 Armenteros, Jose R A1 Buckingham, Kati J A1 Nkinsi, Naomi T A1 Boyle, Evan A A1 Berry, Margaret N A1 Bocian, Maureen A1 Foulds, Nicola A1 Uzielli, Maria Luisa Giovannucci A1 Haldeman-Englert, Chad A1 Hennekam, Raoul CM A1 Kaplan, Paige A1 Kline, Antonie D A1 Mercer, Catherine L A1 Nowaczyk, Malgorzata JM A1 Wassink-Ruiter, Jolien S Klein A1 McPherson, Elizabeth W A1 Moreno, Regina A A1 Scheuerle, Angela E A1 Shashi, Vandana A1 Stevens, Cathy A A1 Carey, John C A1 Monteil, Arnaud A1 Lory, Philippe A1 Tabor, Holly K A1 Smith, Joshua D A1 Shendure, Jay A1 Nickerson, Deborah A A1 Genomics, University of Washington Center for Mendelian A1 Bamshad, Michael J A1 Abecasis, Gonçalo R A1 Anderson, Peter A1 Blue, Elizabeth Marchani A1 Annable, Marcus A1 Browning, Brian L A1 Chen, Christina A1 Chin, Jennifer A1 Cooper, Gregory M A1 Davis, Colleen P A1 Frazar, Christopher A1 Harrell, Tanya M A1 He, Zongxiao A1 Jain, Preti A1 Jarvik, Gail P A1 Jimenez, Guillaume A1 Johanson, Eric A1 Jun, Goo A1 Kircher, Martin A1 Kolar, Tom A1 Krauter, Stephanie A A1 Krumm, Niklas A1 Leal, Suzanne M A1 Luksic, Daniel A1 McGee, Sean A1 O'Reilly, Patrick A1 Paeper, Bryan A1 Patterson, Karynne A1 Perez, Marcos A1 Phillips, Sam W A1 Pijoan, Jessica A1 Poel, Christa A1 Reinier, Frederic A1 Robertson, Peggy D A1 Santos-Cortez, Regie A1 Shaffer, Tristan A1 Shephard, Cindy A1 Siegel, Deborah L A1 Staples, Jeffrey C A1 Tackett, Monica A1 Underwood, Jason G A1 Wegener, Marc A1 Wang, Gao A1 Wheeler, Marsha M A1 Yi, Qian PB eScholarship, University of California YR 2015 K1 Biological Sciences K1 Bioinformatics and Computational Biology K1 Biomedical and Clinical Sciences K1 Genetics K1 Rare Diseases K1 Congenital Structural Anomalies K1 Pediatric K1 Clinical Research K1 Aetiology K1 2.1 Biological and endogenous factors K1 Congenital K1 Arthrogryposis K1 Contracture K1 Craniofacial Dysostosis K1 Cytoskeletal Proteins K1 Exome K1 Extremities K1 Face K1 Female K1 Gene Frequency K1 High-Throughput Nucleotide Sequencing K1 Homozygote K1 Humans K1 Infant K1 Ion Channels K1 Male K1 Membrane Proteins K1 Muscle Hypotonia K1 Mutation K1 Missense K1 Sodium Channels K1 University of Washington Center for Mendelian Genomics K1 Medical and Health Sciences K1 Genetics & Heredity K1 Health sciences JF qt59c5b36g LK http://dx.doi.org/https://escholarship.org/uc/item/59c5b36g DO https://escholarship.org/uc/item/59c5b36g SF ELIB - SuUB Bremen
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