Found: 7
Select item for more details and to access through your institution.
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 2, p. 171, doi. 10.1111/j.1399-0004.2008.01029.x
- By:
- Publication type:
- Article
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 9, p. 696, doi. 10.1007/s004150070113
- By:
- Publication type:
- Article
Three-generational alkaptonuria in a non-consanguineous family.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, p. 425, doi. 10.1007/s10545-008-0994-7
- By:
- Publication type:
- Article
Genetik der Demenzen.
- Published in:
- Der Nervenarzt, 2015, v. 86, n. 7, p. 891, doi. 10.1007/s00115-015-4276-y
- By:
- Publication type:
- Article
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies.
- Published in:
- 1999
- By:
- Publication type:
- commentary
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Exomdiagnostik verändert die Sicht auf Mitochondriopathien.
- Published in:
- Medizinische Genetik, 2012, v. 24, n. 3, p. 183, doi. 10.1007/s11825-012-0348-6
- By:
- Publication type:
- Article