Detalles de la búsqueda
1.
Whole exome sequencing identifies a novel variant causing cockayne syndrome type I in a consanguineous Pakistani family.
Int J Neurosci;
: 1-6, 2022 Jun 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35645363
2.
Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family.
J Clin Neurosci;
94: 8-12, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34863467
3.
A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family.
Genes (Basel);
12(8)2021 08 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34440456
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32677750
5.
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
J Clin Neurosci;
67: 19-23, 2019 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-31281085
Resultados
1 -
5
de 5
1
Próxima >
>>