Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979581
2.
Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Mol Genet Genomics
; 299(1): 44, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38625590
3.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820833
4.
Pseudoautosomal region 1 length polymorphism in the human population.
PLoS Genet
; 10(11): e1004578, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25375121
5.
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.
Eur J Hum Genet
; 32(5): 558-566, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374468
6.
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv
; 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37292616
7.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199217
8.
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.
Am J Med Genet A
; 149A(5): 894-905, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19363806
9.
Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.
Folia Med (Plovdiv)
; 50(4): 55-62, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19209531