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1.
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
Mol Vis
; 16: 26-35, 2010 Jan 12.
Article
in English
| MEDLINE | ID: mdl-20069065
2.
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Ann Neurol
; 63(4): 473-81, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-18306232
3.
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Hum Mutat
; 29(9): 1125-32, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18470948
4.
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Ann Neurol
; 62(4): 422-6, 2007 Oct.
Article
in English
| MEDLINE | ID: mdl-17696123
5.
Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection.
Am J Med Genet B Neuropsychiatr Genet
; 147(3): 294-300, 2008 Apr 05.
Article
in English
| MEDLINE | ID: mdl-17886254
6.
The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
Eur J Hum Genet
; 15(2): 155-61, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17106447
7.
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
Eur J Hum Genet
; 15(11): 1132-8, 2007 Nov.
Article
in English
| MEDLINE | ID: mdl-17637805
8.
Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.
J Child Neurol
; 21(6): 508-11, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16948936
9.
No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
Eur J Hum Genet
; 11(11): 884-7, 2003 Nov.
Article
in English
| MEDLINE | ID: mdl-14571275
10.
Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
J Med Genet
; 44(4): e75, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17400794
11.
Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle.
J Neurol
; 254(11): 1614-5, 2007 Nov.
Article
in English
| MEDLINE | ID: mdl-17965958
12.
Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
J Am Soc Nephrol
; 11(9): 1762-1766, 2000 Sep.
Article
in English
| MEDLINE | ID: mdl-10966502
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