Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families ; volume:21 ; number:1 ; day:24 ; month:3 ; year:2020 ; pages:1-8 ; date:12.2020
BMC medical genetics ; 21, Heft 1 (24.3.2020), 1-8, 12.2020
- Creator
-
Ilyas, Muhammad
Efthymiou, Stephanie
Salpietro, Vincenzo
Noureen, Nuzhat
Zafar, Faisal
Rauf, Sobiah
Mir, Asif
Houlden, Henry
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12881-020-00998-z
- URN
-
urn:nbn:de:101:1-2020061519431141330502
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
- 14.08.2025, 8:47 AM UTC
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Ilyas, Muhammad
- Efthymiou, Stephanie
- Salpietro, Vincenzo
- Noureen, Nuzhat
- Zafar, Faisal
- Rauf, Sobiah
- Mir, Asif
- Houlden, Henry
- SpringerLink (Online service)
Other Objects (12)
Genetics of autosomal recessive intellectual disability
Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds
Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families
Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
Autosomal recessive cerebellar ataxias
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin
Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds
Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families
Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
Autosomal recessive cerebellar ataxias
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin
Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds
Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families
Identification and characterization of gene defects underlying autosomal recessive intellectual disability in two Iranian families
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability
Autosomal recessive cerebellar ataxias
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin
Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability