Found: 11
Select item for more details and to access through your institution.
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 762, doi. 10.1038/ejhg.2013.241
- By:
- Publication type:
- Article
Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2008, v. 246, n. 10, p. 1441, doi. 10.1007/s00417-008-0836-1
- By:
- Publication type:
- Article
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962b
- By:
- Publication type:
- Article
Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 803, doi. 10.1038/ng.3308
- By:
- Publication type:
- Article
New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 3, p. 283, doi. 10.1111/j.1469-1809.2009.00508.x
- By:
- Publication type:
- Article
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 127, doi. 10.1186/s12881-014-0127-0
- By:
- Publication type:
- Article
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
- Published in:
- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-88
- By:
- Publication type:
- Article
The human TBX5 gene mutation database.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 397, doi. 10.1002/humu.9375
- By:
- Publication type:
- Article
Gene conversion cetween functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 343, doi. 10.1002/humu.20148
- By:
- Publication type:
- Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2644, doi. 10.1002/ajmg.a.37771
- By:
- Publication type:
- Article
Association of death receptor 4 variant (683A>C) with ovarian cancer risk in BRCA1 mutation carriers.
- Published in:
- International Journal of Cancer, 2012, v. 130, n. 6, p. 1314, doi. 10.1002/ijc.26134
- By:
- Publication type:
- Article