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JCI Insight|August 17, 2021
Mutations in EPHB4 cause human venous valve aplasiaOliver Lyons, James Walker, Christopher Seet, et al.European Journal of Medical Genetics|December 24, 2023
The VASCERN PPL working group patient pathway for primary and paediatric lymphoedemaNele Devoogdt, Sarah Thomis, Florence Belva, et al.Nature Genetics|September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.European Journal of Human Genetics : EJHG|November 28, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutationsGabriela E Jones, Pia Ostergaard, Anthony T Moore, et al.European Journal of Human Genetics : EJHG|January 28, 2010
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted lociClaire Louise Susan Turner, Deborah M Mackay, Jonathan L A Callaway, et al.The Journal of Experimental Medicine|July 21, 2017
Human venous valve disease caused by mutations in FOXC2 and GJC2Oliver Lyons, Prakash Saha, Christopher Seet, et al.Journal of Medical Genetics|March 8, 2024
Biallelic variants in Plexin B2 (<i>PLXNB2</i>) cause amelogenesis imperfecta, hearing loss and intellectual disabilityClaire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, et al.American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.Nature Genetics|March 8, 2011
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossMichael A Simpson, Melita D Irving, Esra Asilmaz, et al.American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.Pageof 16