Detalhe da pesquisa
1.
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Am J Med Genet A
; 167A(11): 2795-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26238661
2.
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Am J Med Genet A
; 167A(9): 2132-7, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25846457
3.
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Genet Med
; 16(5): 386-394, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136616
4.
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
BMC Med Genomics
; 9(1): 42, 2016 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-27435318
5.
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
J Clin Invest
; 126(2): 762-78, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26752647
6.
Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
J Clin Endocrinol Metab
; 100(1): E140-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25322266
7.
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
J Clin Endocrinol Metab
; 100(5): E808-14, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25774885
8.
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
J Clin Invest
; 125(2): 636-51, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574841
9.
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Neuron
; 88(3): 499-513, 2015 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26539891