Detalhe da pesquisa
1.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
2.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
3.
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
Am J Med Genet A
; 179(2): 219-223, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556359
4.
Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.
Am J Med Genet A
; 188(3): 1000-1004, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894067
5.
[The importance of early recognition of Prader-Willi syndrome]. / Het Prader-Willi-syndroom.
Ned Tijdschr Geneeskd
; 1682024 May 08.
Artigo
em Holandês
| MEDLINE | ID: mdl-38747584
6.
Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study.
Birth Defects Res A Clin Mol Teratol
; 82(2): 98-105, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172903
7.
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Eur J Hum Genet
; 23(5): 610-5, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118028
8.
Linking animal models to human congenital diaphragmatic hernia.
Birth Defects Res A Clin Mol Teratol
; 79(8): 565-72, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17469205
9.
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.
Hum Mol Genet
; 16(4): 424-30, 2007 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17210672