Detalles de la búsqueda
1.
A Novel Missense Mutation in the TGF-ß-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability.
Adv Biomed Res
; 12: 114, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37288014
2.
Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems.
Mol Syndromol
; 11(2): 62-72, 2020 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655337
3.
Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.
Gene
; : 144918, 2020 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32621952
4.
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family.
Cell J
; 21(1): 70-77, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30507091
5.
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
Cell J
; 21(3): 337-349, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31210441
6.
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.
Gene
; 659: 160-167, 2018 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29551499
Resultados
1 -
6
de 6
1
Próxima >
>>