(Q43161981)

15 November 2017

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion (English)

1 reference

15 November 2017

cerebellar hypoplasia

1 reference

Tayfun Ozcelik

1

1 reference

15 November 2017

Nurten Akarsu

2

1 reference

15 November 2017

Elif Uz

3

1 reference

15 November 2017

Safak Caglayan

4

1 reference

15 November 2017

Suleyman Gulsuner

5

1 reference

15 November 2017

Onur Emre Onat

6

1 reference

15 November 2017

Meliha Tan

7

1 reference

15 November 2017

Uner Tan

8

1 reference

15 November 2017

language of work or name

English

0 references

publication date

1 June 2008

1 reference

Proceedings of the National Academy of Sciences of the United States of America

15 November 2017

1 reference

15 November 2017

105

1 reference

15 November 2017

E32-3

1 reference

15 November 2017

23

1 reference

Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

The dysequilibrium syndrome in cerebral palsy. Clinical aspects and treatment.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

"Devolution" of bipedality

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

Genes and quadrupedal locomotion in humans

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2656353

The low-weight groups and haemodialysis

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.0804078105

21 January 2018

Identifiers

DOI

10.1073/PNAS.0804078105

1 reference

15 November 2017

0 references

1 reference

15 November 2017

1 reference