Showing results (41-50 of 112) with videos related to

Sort By:
Pageof 12
Molecular Syndromology|November 1, 2012
High Intellectual Function in Individuals with Mutation-Positive Microform HoloprosencephalyB D Solomon, D E Pineda-Alvarez, A L Gropman, et al.
Genetics|October 19, 2001
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1R M Clark, P C Marker, E Roessler, et al.
Clinical Genetics|November 29, 2016
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delayN Orenstein, K Weiss, S N Oprescu, et al.
The New England Journal of Medicine|August 22, 1996
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressivaA B Shafritz, E M Shore, F H Gannon, et al.
Prenatal Diagnosis|December 18, 2001
Semilobar holoprosencephaly in a 46,XY female fetusI Witters, P Moerman, M Muenke, et al.
Molecular Syndromology|November 4, 2010
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in HumansR F Arauz, B D Solomon, D E Pineda-Alvarez, et al.
American Journal of Medical Genetics|February 2, 1996
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicismH B Janoff, M Muenke, L O Johnson, et al.
Plastic and Reconstructive Surgery|December 18, 2001
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary reportL B Cassileth, S P Bartlett, P M Glat, et al.
Genomics|January 20, 1995
The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21G T Berry, J J Mallee, H M Kwon, et al.
American Journal of Medical Genetics|December 30, 1996
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?R L Kelley, E Roessler, R C Hennekam, et al.
Pageof 12