Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Urheber
-
Ilyas, Muhammad
Efthymiou, Stephanie
Salpietro, Vincenzo
Noureen, Nuzhat
Zafar, Faisal
Rauf, Sobiah
Mir, Asif
Houlden, Henry
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s12881-020-00998-z
- URN
-
urn:nbn:de:101:1-2020061519431141330502
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
- 14.08.2025, 10:47 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Ilyas, Muhammad
- Efthymiou, Stephanie
- Salpietro, Vincenzo
- Noureen, Nuzhat
- Zafar, Faisal
- Rauf, Sobiah
- Mir, Asif
- Houlden, Henry
- SpringerLink (Online service)
Ähnliche Objekte (12)
Genetics of autosomal recessive intellectual disability
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
Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds
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
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
Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds
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
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
Molecular Genetic Analysis of Autosomal Recessive Primary Microcephaly in Pakistani Kindreds
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