Results 1 -
8
of
8
for
Steel syndrome
- ... Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding ...
- ... Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding ...
- ... Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91( ...
- ... Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91( ...
- ... history and retinal structure in patients with Usher syndrome type 1 owing to ... P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD. Mutations in the myosin VIIA ...
- ... PRODH NCBI Gene ClinVar Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver ... Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. J Inherit Metab Dis. 2000 Dec;23(8): ...
- ... al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J ... ep12399455. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...
- ... al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J ... ep12399455. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...