Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
Genetics in Medicine Open|February 10, 2025
Biallelic <i>SLC13A1</i> loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasiaChristina G Tise, Katie Ashton, Lachlan de Hayr, et al.
Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.
Plos One|November 6, 2008
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysToshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, et al.
Human Mutation|February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectWilliam S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
NPJ Genomic Medicine|March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndromeJosephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.
Pageof 8