(Q36703593)

15 August 2017

1 reference

title

Multiple mutations responsible for frequent genetic diseases in isolated populations (English)

1 reference

15 August 2017

Joël Zlotogora

1

1 reference

15 August 2017

10 January 2007

1 reference

European Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

15

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15 August 2017

272-278

1 reference

15 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201760

15 August 2017

0 references

cites work

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201760

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201760

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201760

Novel PRG4 mutations underlie CACP in Saudi families

21 January 2018

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Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

21 January 2018

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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Molecular basis of autosomal recessive diseases among the Palestinian Arabs

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201760

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance

21 January 2018

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Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

21 January 2018

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USH1A: chronicle of a slow death

21 January 2018

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Relevance of connexin deafness (DFNB1) to human evolution

21 January 2018

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The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

21 January 2018

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ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

21 January 2018

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Selection for carriers of recessive diseases: a common phenomenon?

21 January 2018

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Use of isolated inbred human populations for identification of disease genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201760

High incidence of deafness from three frequent connexin 26 mutations in an isolated community

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201760

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201760

1 reference

15 August 2017

1 reference

PubMed ID

17213840