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1.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet
; 16: 41, 2015 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-26104215
2.
New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Am J Med Genet A
; 167(6): 1396-9, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25899461
3.
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Neurogenetics
; 15(2): 117-27, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24643514
4.
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Hum Genet
; 133(8): 975-84, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24623383
5.
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Hum Genet
; 133(11): 1419-29, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25098561
6.
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression.
PLoS One
; 9(4): e91742, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24699272
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