Detalhe da pesquisa
1.
The development of inherited cardiac conditions services: current position and future perspectives.
Br Med Bull
; 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400770
2.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
3.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Genet Med
; 22(10): 1576-1582, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572181
4.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Genet Med
; 22(3): 524-537, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578471
5.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Neurology
; 99(14): e1511-e1526, 2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36192182
6.
Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability.
Clin Dysmorphol
; 24(4): 151-5, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26267847