(Q51874264)

15 April 2018

title

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. (English)

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15 April 2018

7

Fowzan S Alkuraya

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15 April 2018

1

Ranad Shaheen

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15 April 2018

author name string

Eissa Faqeih

2

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15 April 2018

Mohammed Z Seidahmed

3

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15 April 2018

Asma Sunker

4

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15 April 2018

Faten Ezzat Alali

5

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15 April 2018

Khadijah AlQahtani

6

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15 April 2018

publication date

5 May 2011

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15 April 2018

published in

Human Mutation

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15 April 2018

volume

32

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15 April 2018

issue

6

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15 April 2018

page(s)

573-578

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15 April 2018

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21507

Rhombomere-specific analysis reveals the repertoire of genetic cues expressed across the developing hindbrain.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21507

Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21507

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Genetic diversity among the Arabs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Expanding CEP290 mutational spectrum in ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21507

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21507

1 reference

15 April 2018

1 reference

15 April 2018