Detalhe da pesquisa
1.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
2.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin Genet
; 100(4): 486-488, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270086
3.
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Mol Genet Genomic Med
; 8(9): e1408, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677750
4.
Spectrum of beta-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis.
Haematologica
; 91(3): ELT02, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16533735
5.
Prenatal diagnosis of beta-thalassemia in Southern Punjab, Pakistan.
Prenat Diagn
; 26(10): 903-5, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16821247