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1 Ergebnisse
1
Heterozygous variants in MYBPC1 are associated with an expa..:
Shashi, Vandana
;
Geist, Janelle
;
Lee, Youngha
...
qt44k6m8qw. , 2019
Link:
https://escholarship.org/uc/item/44k6m8qw
RT Journal T1
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt44k6m8qw&Exemplar=1&LAN=DE A1 Shashi, Vandana A1 Geist, Janelle A1 Lee, Youngha A1 Yoo, Yongjin A1 Shin, Unbeom A1 Schoch, Kelly A1 Sullivan, Jennifer A1 Stong, Nicholas A1 Smith, Edward A1 Jasien, Joan A1 Kranz, Peter A1 Lee, Yoonsung A1 Shin, Yong Beom A1 Wright, Nathan T A1 Choi, Murim A1 Kontrogianni‐Konstantopoulos, Aikaterini A1 Acosta, Maria T A1 Adams, David R A1 Aday, Aaron A1 Alejandro, Mercedes E A1 Allard, Patrick A1 Ashley, Euan A A1 Azamian, Mahshid S A1 Bacino, Carlos A A1 Bademci, Guney A1 Baker, Eva A1 Balasubramanyam, Ashok A1 Baldridge, Dustin A1 Barbouth, Deborah A1 Batzli, Gabriel F A1 Beggs, Alan H A1 Bellen, Hugo J A1 Bernstein, Jonathan A A1 Berry, Gerard T A1 Bican, Anna A1 Bick, David P A1 Birch, Camille L A1 Bivona, Stephanie A1 Bonnenmann, Carsten A1 Bonner, Devon A1 Boone, Braden E A1 Bostwick, Bret L A1 Briere, Lauren C A1 Brokamp, Elly A1 Brown, Donna M A1 Brush, Matthew A1 Burke, Elizabeth A A1 Burrage, Lindsay C A1 Butte, Manish J A1 Carrasquillo, Olveen A1 Chang, Ta Chen Peter A1 Chao, Hsiao‐Tuan A1 Clark, Gary D A1 Coakley, Terra R A1 Cobban, Laurel A A1 Cogan, Joy D A1 Cole, F Sessions A1 Colley, Heather A A1 Cooper, Cynthia M A1 Cope, Heidi A1 Craigen, William J A1 D'Souza, Precilla A1 Dasari, Surendra A1 Davids, Mariska A1 Davidson, Jean M A1 Dayal, Jyoti G A1 Dell'Angelica, Esteban C A1 Dhar, Shweta U A1 Dorrani, Naghmeh A1 Dorset, Daniel C A1 Douine, Emilie D A1 Draper, David D A1 Dries, Annika M A1 Duncan, Laura A1 Eckstein, David J A1 Emrick, Lisa T A1 Eng, Christine M A1 Enns, Gregory M A1 Esteves, Cecilia A1 Estwick, Tyra A1 Fernandez, Liliana A1 Ferreira, Carlos A1 Fieg, Elizabeth L A1 Fisher, Paul G A1 Fogel, Brent L A1 Forghani, Irman A1 Friedman, Noah D A1 Gahl, William A A1 Godfrey, Rena A A1 Goldman, Alica M A1 Goldstein, David B A1 Gourdine, Jean‐Philippe F A1 Grajewski, Alana A1 Groden, Catherine A A1 Gropman, Andrea L A1 Haendel, Melissa A1 Hamid, Rizwan A1 Hanchard, Neil A A1 High, Frances A1 Holm, Ingrid A PB eScholarship, University of California YR 2019 K1 Biological Sciences K1 Medical Physiology K1 Biomedical and Clinical Sciences K1 Clinical Research K1 Rare Diseases K1 Aetiology K1 2.1 Biological and endogenous factors K1 Musculoskeletal K1 Adult K1 Arthrogryposis K1 Carrier Proteins K1 Child K1 Fathers K1 Female K1 Humans K1 Infant K1 Male K1 Models K1 Molecular K1 Mutation K1 Neuromuscular Diseases K1 Pedigree K1 Phenotype K1 Protein Conformation K1 Whole Genome Sequencing K1 hypotonia K1 MYBPC1 K1 myopathy K1 myosin binding protein-C K1 tremor K1 Undiagnosed Diseases Network K1 Genetics K1 Clinical Sciences K1 Genetics & Heredity JF qt44k6m8qw LK http://dx.doi.org/https://escholarship.org/uc/item/44k6m8qw DO https://escholarship.org/uc/item/44k6m8qw SF ELIB - SuUB Bremen
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