(Q37687830)

22 August 2017

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title

Homozygosity mapping: one more tool in the clinical geneticist's toolbox (English)

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22 August 2017

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1

Fowzan S Alkuraya

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22 August 2017

language of work or name

English

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publication date

1 April 2010

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22 August 2017

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22 August 2017

volume

12

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22 August 2017

issue

4

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22 August 2017

page(s)

236-239

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181ceb95d

22 August 2017

exact match

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cites work

Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Parental consanguinity in specific types of congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

A systematic approach to mapping recessive disease genes in individuals from outbred populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Runs of homozygosity in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

The impact of consanguinity worldwide

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CEB95D

10.1097/GIM.0B013E3181CEB95D

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

22 August 2017

1029862300

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1 reference