Detalhe da pesquisa
1.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
2.
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Am J Med Genet A
; 191(4): 1044-1049, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36628575
3.
A founder noncoding GALT variant interfering with splicing causes galactosemia.
J Inherit Metab Dis
; 43(6): 1199-1204, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748411
4.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Hum Mutat
; 39(5): 666-675, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330883
5.
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Am J Med Genet A
; 173(4): 1066-1070, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328136
6.
COVID-19 in a child with severe propionic acidemia.
Pediatr Int
; 63(5): 606-607, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002470
7.
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Hum Genet
; 133(6): 737-42, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24337657
8.
Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.
Genes (Basel)
; 13(11)2022 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360281
9.
Unique Case of Congenital Lipomatous Overgrowth With Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Anomalies Syndrome in a Pediatric Patient.
Cureus
; 12(9): e10737, 2020 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33145141
10.
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
Ophthalmic Genet
; 41(4): 363-367, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32543263
11.
Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction.
Pediatr Gastroenterol Hepatol Nutr
; 22(5): 487-492, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31555574