Results 181 to 190 of about 13,759 (208)

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Nature Genetics, 2004
Paul Gissen, Neil V Morgan, Tim Forshew
exaly  

Arthrogryposis Multiplex Congenita

Clinical Orthopaedics and Related Research, 1973
F K, Shariff, D, Horoupian, R K, Greenlaw   +2 more
openaire   +2 more sources

Arthrogryposis

2017
David Johannesmeyer, Reed Estes
openaire   +2 more sources

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

European Journal of Medical Genetics, 2014
Judith G Hall
exaly  

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2019
Noemi Dahan-Oliel, Sarah Cachecho, Tanya Bedard   +2 more
exaly  

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Human Molecular Genetics, 2014
Laura Fontenas, Klaus Dieterich, Stanislas Lyonnet   +2 more
exaly  

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

American Journal of Human Genetics, 2019
Pamela Magini, Laura V Vandervore, Rachel Schot   +2 more
exaly  

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

American Journal of Human Genetics, 2013
Hiromi Hirata, Dominik Seelow, Alastair H Maclennan   +2 more
exaly  

Arthrogryposis.

Journal of pediatric orthopedics, 1988
J A, Herring, J V, Banta
openaire   +1 more source

Arthrogryposis

2012
openaire   +2 more sources