Detalhe da pesquisa
1.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815299
2.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
3.
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
4.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
5.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
6.
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.
Am J Med Genet A
; 161A(3): 417-29, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404932
7.
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Nat Commun
; 12(1): 833, 2021 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547280
8.
Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops.
Fetal Diagn Ther
; 24(3): 250-3, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18765938
9.
Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.
Clin Case Rep
; 1(1)2013 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24416505
10.
Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.
Adv Pediatr
; 58(1): 195-206, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21736982
11.
Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.
Pediatr Pathol Mol Med
; 21(6): 569-84, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12622018