Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families ; volume:20 ; number:1 ; day:18 ; month:12 ; year:2019 ; pages:1-9 ; date:12.2019
BMC medical genetics ; 20, Heft 1 (18.12.2019), 1-9, 12.2019
- Creator
-
Khan, Shazia
Rawlins, Lettie E.
Harlalka, Gaurav V.
Umair, Muhammad
Ullah, Asmat
Shahzad, Shaheen
Javed, Muhammad
Baple, Emma L.
Crosby, Andrew H.
Ahmad, Wasim
Gul, Asma
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12881-019-0907-7
- URN
-
urn:nbn:de:101:1-2020040805554248711689
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
- 14.08.2025, 10:45 AM CEST
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
- Khan, Shazia
- Rawlins, Lettie E.
- Harlalka, Gaurav V.
- Umair, Muhammad
- Ullah, Asmat
- Shahzad, Shaheen
- Javed, Muhammad
- Baple, Emma L.
- Crosby, Andrew H.
- Ahmad, Wasim
- Gul, Asma
- SpringerLink (Online service)
Other Objects (12)
Neurological diseases
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
CNS - neurological diseases
Age associated neurological diseases
Dementia and neurological diseases
Insomnia in neurological diseases
Homozygous Germline APC p.I1307K Variants: A Case Series
Intravenous immunoglobulins in neurological diseases
Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF
Controversies in neurological surgery : neurovascular diseases
Repurposing drugs to treat neurological diseases
Multiparametric quantitative MRI in neurological diseases
Neurological diseases
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
CNS - neurological diseases
Age associated neurological diseases
Dementia and neurological diseases
Insomnia in neurological diseases
Homozygous Germline APC p.I1307K Variants: A Case Series
Intravenous immunoglobulins in neurological diseases
Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF
Controversies in neurological surgery : neurovascular diseases
Repurposing drugs to treat neurological diseases
Multiparametric quantitative MRI in neurological diseases
Neurological diseases
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
CNS - neurological diseases
Age associated neurological diseases
Dementia and neurological diseases
Insomnia in neurological diseases
Homozygous Germline APC p.I1307K Variants: A Case Series
Intravenous immunoglobulins in neurological diseases
Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF
Controversies in neurological surgery : neurovascular diseases
Repurposing drugs to treat neurological diseases