Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa - Wikidata - awgldk - TriplyDB

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

http://www.wikidata.org/entity/Q33726102

about

Multidisciplinary approach to genomics research in Africa: the AfriCRAN model Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.Genetics and genomics etiology of nonsyndromic orofacial clefts.Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.Medical genetics and genomic medicine in Nigeria.

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P2860

Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa

http://www.wikidata.org/entity/Q33726102

description

2014 nî lūn-bûn

@nan

2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

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Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

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type

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Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

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Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

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Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

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Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

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Molecular genetics & genomic medicine

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Novel IRF6 mutations in famili ...... ndrome from sub-Saharan Africa

@en

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Akinola L Ladeinde

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Azeez Butali

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Babatunde S Aregbesola

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Christian I Emeka

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Dee Even

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Fikre Abate

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Ibrahim Mohammed

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Jeffrey C Murray

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Jennifer V Rigdon

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LauRen A Gaines

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P2860

Popliteal pterygium syndrome.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

A method and server for predicting damaging missense mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Van der Woude syndrome: dentofacial features and implications for clinical practice.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.

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254-260

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scholarly article

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10.1002/MGG3.66

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3

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2

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Adebowale Adeyemo

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2014-01-27T00:00:00Z

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263209304

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24936515

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Sub-Saharan Africa

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4049366

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