- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2377
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
A case report of SPG11 mutations in a Chinese ARHSP-TCC family ; volume:16 ; number:1 ; day:3 ; month:6 ; year:2016 ; pages:1-4 ; date:12.2016
BMC neurology ; 16, Heft 1 (3.6.2016), 1-4, 12.2016
- Creator
-
Zhang, Linwei
- Contributor
-
McFarland, Karen N.
Jiao, Jinsong
Jiao, Yujuan
SpringerLink (Online service)
- DOI
-
10.1186/s12883-016-0604-5
- URN
-
urn:nbn:de:1111-201606047099
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 11:01 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
- Zhang, Linwei
- McFarland, Karen N.
- Jiao, Jinsong
- Jiao, Yujuan
- SpringerLink (Online service)
Other Objects (12)
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family
Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family
Cat eye syndrome caused by 22q11.1q11.21 duplication: case report in a Chinese family
Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms
Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report
Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
GALC mutations in Chinese patients with late-onset Krabbe disease: a case report
Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report
Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report
Case report: Analysis of BRCA1 and BRCA2 gene mutations in a hereditary ovarian cancer family