Detalhe da pesquisa
1.
Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?
Prenat Diagn
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38768012
2.
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Front Endocrinol (Lausanne)
; 14: 1213098, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576960
3.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Mol Syndromol
; 14(5): 433-438, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37915395
4.
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.
Clin Case Rep
; 10(10): e6308, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36237940
5.
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Birth Defects Res
; 114(12): 674-681, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751431
6.
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Mol Genet Genomic Med
; 9(9): e1753, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34318601
7.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Front Genet
; 12: 732002, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621295
8.
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.
Eur J Med Genet
; 62(9): 103555, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359776
9.
Liver chemistry in new-onset Henoch-Schönlein syndrome.
Ital J Pediatr
; 43(1): 85, 2017 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934973