Detalhe da pesquisa
1.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clin Genet
; 101(5-6): 530-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322404
2.
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
Am J Med Genet A
; 188(3): 735-750, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816580
3.
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion.
Neuropediatrics
; 51(1): 76-82, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31634935
4.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI Insight
; 8(22)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37796616
5.
Uterine didelphys: diagnosis, management and pregnancy outcome.
BMJ Case Rep
; 14(3)2021 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33782076
6.
Assessment of Quality of Life among Children with End-Stage Renal Disease: A Cross-Sectional Study.
J Environ Public Health
; 2018: 8565498, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30305825