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1.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet;
92(6): 946-54, 2013 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-23664116
2.
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.
Front Genet;
13: 815210, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35145552
3.
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Neurology;
93(16): e1535-e1542, 2019 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31541013
4.
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
BMC Med Genet;
5: 24, 2004 Sep 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-15447792
5.
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
Am J Med Genet;
110(2): 103-8, 2002 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12116246
6.
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Eur J Hum Genet;
17(5): 554-64, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19107147
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