Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jennifer Stallworth"'
Autor:
Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100875- (2022)
Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondr
Externí odkaz:
https://doaj.org/article/17a846fdbc06476496d165a9c3b86ed3
Autor:
Jessica A. Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Jennifer Stallworth, Jessica Worthington, Caroline Black Buchanan, David B. Everman, Steven Skinner, Michael J. Friez, Julie R. Jones, Catherine J. Spellicy
Publikováno v:
American Journal of Medical Genetics Part A. 188:2988-2998
Rett (RTT) syndrome, a neurodevelopmental disorder caused by pathogenic variation in the MECP2 gene, is characterized by developmental regression, loss of purposeful hand movements, stereotypic hand movements, abnormal gait, and loss of spoken langua
Autor:
Laura Claus, Jennifer Stallworth, Richard van Jaarsveld, Joshu Turner, Alexandra Hawks, Melanie May, Heather Flanagan-Steet, Raymond Louie, Josh Silver, Jordan Lerner-Ellise, Chantal Morel, Chloe Mighton, Alban Ziegler, Stefan Barakat, Karin Dahan, Nathalie Demoulin, Eric Jean Goffin, Martin Larsen, Jens Michael Hertz, Marc Lilien, Eric Olinger, John Sayer, Lena Obeidová, Tomas Seeman, Sarah Senum, Christian Hanna, Curtis Rogers, Karen Duran, Edith Peters, Peter Harris, Jennifer Mason, Gijs van Haaften, Albertien M. Van Eerde, Richard Steet
BACKGROUND AND AIMS NEK8/NPHP9 encodes a protein that localizes to the primary cilium. Biallelic NEK8 variants are known to cause multiorgan developmental defects, including kidney cystic dysplasia and extensive extra-renal defects, with heterozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e5827e331ceffedc4c2e3b02c54fef
https://hdl.handle.net/2078.1/267254
https://hdl.handle.net/2078.1/267254