Detalhe da pesquisa
1.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
2.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
3.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063350
4.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Sci Rep
; 14(1): 2330, 2024 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38282012
5.
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Eur J Hum Genet
; 31(7): 793-804, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599938
6.
Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract.
Heliyon
; 8(12): e12210, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36568675
7.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Eur J Hum Genet
; 30(6): 682-686, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34803161
8.
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
Eur J Hum Genet
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38066173