Detalhe da pesquisa
1.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Am J Hum Genet
; 101(3): 391-403, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886341
2.
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Hum Mol Genet
; 23(22): 5940-9, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951542
3.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 856-63, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541562
4.
A novel single base pair duplication in WDR62 causes primary microcephaly.
BMC Med Genet
; 15: 107, 2014 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25303973
5.
Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.
J Med Genet
; 49(7): 422-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22652532
6.
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet
; 9(2): 130-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933038
7.
Development of renal renin-expressing cells does not involve PDGF-B-PDGFR-ß signaling.
Physiol Rep
; 1(5): e00132, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24303195
8.
Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.
J Genet
; 93(2): 527-30, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189253