Detalhe da pesquisa
1.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
2.
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Am J Med Genet A
; 191(5): 1261-1272, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797513
3.
The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.
Neuropediatrics
; 53(4): 274-278, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34879425
4.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941880
5.
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Am J Med Genet C Semin Med Genet
; 184(1): 129-135, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965688
6.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
7.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997314
8.
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Mitochondrion
; 68: 138-144, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36509339
9.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
; 31(9): 1023-1031, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344571
10.
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
Brain Sci
; 10(11)2020 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33126574
11.
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Eur J Med Genet
; 63(10): 104004, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32688057