Detalhe da pesquisa
1.
Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype-Genotype Correlation in 97 Patients with Motor Developmental Delay.
J Pediatr Genet
; 13(1): 15-21, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38567176
2.
A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum.
Cureus
; 15(4): e36996, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37139028
3.
A Case of Severe Teratozoospermia and Infertility Due to Homozygous Mutation c.144delC in the AURKC Gene.
Cureus
; 15(8): e43376, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700958
4.
Rare and Atypical Case of Turner Syndrome With Three Cell Lines.
Cureus
; 15(6): e41128, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37519544
5.
The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a Moroccan Population Study.
Cureus
; 15(4): e37866, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37223137
6.
FLT3 Mutations in Acute Myeloid Leukemia: Unraveling the Molecular Mechanisms and Implications for Targeted Therapies.
Cureus
; 15(9): e45765, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872917