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.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
3.
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat
; 36(4): 454-62, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25655089
4.
PTEN mutations as a cause of constitutive insulin sensitivity and obesity.
N Engl J Med
; 367(11): 1002-11, 2012 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22970944
5.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
6.
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.
Eur J Hum Genet
; 29(9): 1377-1383, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603162
7.
Vitamin A and micronutrient deficiencies post-bariatric surgery: aetiology, complications and management in a complex multiparous pregnancy.
Eur J Clin Nutr
; 72(8): 1176-1179, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895848
8.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Eur J Hum Genet
; 26(1): 64-74, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29180823