Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
2.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
3.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
4.
Pigmentary anomaly caused by mosaic 3q22.2q29 duplication.
Clin Exp Dermatol
; 47(12): 2342-2345, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178237
5.
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.
Cytogenet Genome Res
; 160(4): 185-192, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32316019
6.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
7.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
8.
How to use microarray comparative genomic hybridisation to investigate developmental disorders.
Arch Dis Child Educ Pract Ed
; 100(1): 24-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25189327
9.
A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.
Eur J Med Genet
; 60(5): 257-260, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28286255
10.
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
Eur J Med Genet
; 60(5): 233-238, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249770
11.
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Eur J Med Genet
; 60(2): 130-135, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27915094
12.
A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).
J Pediatr Endocrinol Metab
; 29(12): 1407-1412, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27824615
13.
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.
Eur J Med Genet
; 59(6-7): 310-4, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132474