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Biophysical Journal, ISSN 0006-3495, 01/2014, Volume 106, Issue 2, pp. 562a - 562a
Journal Article
Biophysical Journal, ISSN 0006-3495, 01/2014, Volume 106, Issue 2, pp. 771a - 771a
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
Biophysical Journal, ISSN 0006-3495, 01/2013, Volume 104, Issue 2, pp. 483a - 483a
Journal Article
by Chong, Jessica X and McMillin, Margaret J and Shively, Kathryn M and Beck, Anita E and Marvin, Colby T and Armenteros, Jose R and Buckingham, Kati J and Nkinsi, Naomi T and Boyle, Evan A and Berry, Margaret N and Bocian, Maureen and Foulds, Nicola and Uzielli, Maria Luisa Giovannucci and Haldeman-Englert, Chad and Hennekam, Raoul C.M and Kaplan, Paige and Kline, Antonie D and Mercer, Catherine L and Nowaczyk, Malgorzata J.M and Klein Wassink-Ruiter, Jolien S and McPherson, Elizabeth W and Moreno, Regina A and Scheuerle, Angela E and Shashi, Vandana and Stevens, Cathy A and Carey, John C and Monteil, Arnaud and Lory, Philippe and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Bamshad, Michael J and Abecasis, Gonçalo R and Anderson, Peter and Blue, Elizabeth Marchani and Annable, Marcus and Browning, Brian L and Chen, Christina and Chin, Jennifer and Cooper, Gregory M and Davis, Colleen P and Frazar, Christopher and Harrell, Tanya M and He, Zongxiao and Jain, Preti and Jarvik, Gail P and Jimenez, Guillaume and Johanson, Eric and Jun, Goo and Kircher, Martin and Kolar, Tom and Krauter, Stephanie A and Krumm, Niklas and Leal, Suzanne M and Luksic, Daniel and McGee, Sean and O’Reilly, Patrick and Paeper, Bryan and Patterson, Karynne and Perez, Marcos and Phillips, Sam W and Pijoan, Jessica and Poel, Christa and Reinier, Frederic and Robertson, Peggy D and Santos-Cortez, Regie and Shaffer, Tristan and Shephard, Cindy and Siegel, Deborah L and Staples, Jeffrey C and Tackett, Monica and Underwood, Jason G and Wegener, Marc and Wang, Gao and Wheeler, Marsha M and Yi, Qian and Univ Washington and University of Washington Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2015, Volume 96, Issue 3, pp. 462 - 473
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects,... 
chimera | genome-wide paternal uniparental isodisomy | Beckwith–Wiedemann syndrome (BWS) | mosaicism
Journal Article
Pediatrics, ISSN 0031-4005, 03/2015, Volume 135, Issue 3, pp. e736 - e736
Single-nucleotide polymorphism arrays and other types of genetic tests have the potential to detect first-degree consanguinity and uncover parental rape in... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2014, Volume 164, Issue 11, pp. 2808 - 2813
Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or Freeman–Sheldon syndrome),... 
congenital upper extremity deformities | congenital lower extremity deformities | congenital limb deformities | congenital hand deformities | musculoskeletal abnormalities | congenital foot deformities | arthrogryposis | human MYH3 polypeptide | clubfoot | muscle | contracture | distal arthrogryposis | distal arthrogryposis type 2A | myosin heavy chains | skeletal muscle | Congenital hand deformities | Congenital limb deformities | Myosin heavy chains | Human MYH3 polypeptide | Musculoskeletal abnormalities | Congenital foot deformities | Congenital upper extremity deformities | Contracture | Skeletal muscle | Clubfoot | Congenital lower extremity deformities | Muscle | Arthrogryposis | Distal arthrogryposis type 2A | Distal arthrogryposis | CONTRACTURES | MYOPATHY | CHINESE FAMILY | VARIANT | 2B | GENETICS & HEREDITY | TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME | TNNI2 MUTATION | CAUSE DISTAL ARTHROGRYPOSIS | CLASSIFICATION | HALL-SYNDROME | Genetic Association Studies | Cytoskeletal Proteins - genetics | Exons | Humans | Child, Preschool | Craniofacial Dysostosis - diagnosis | Genotype | Infant | Male | Craniofacial Dysostosis - genetics | Radiography | Phenotype | Spine - diagnostic imaging | DNA Mutational Analysis | Adolescent | Facies | Female | Mutation | Spine - pathology | Child | Family | Genetic aspects | Genetic disorders
Journal Article
Annals of Neurology, ISSN 0364-5134, 08/2019, Volume 86, Issue 2, pp. 181 - 192
Journal Article