Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

about

A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles.

P2860

Q45420195-8B9F5558-97C3-4024-B797-6698DD9AC380

P2860

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

Item

http://www.wikidata.org/entity/Q48931330

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年学术文章

@wuu

2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@en

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@nl

type

Item

label

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@en

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@nl

prefLabel

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@en

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@nl

P1476

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

@en

P2093

Ali M Hellani

http://www.w3.org/2001/XMLSchema#string

Altaf Kondkar

http://www.w3.org/2001/XMLSchema#string

Arif O Khan

http://www.w3.org/2001/XMLSchema#string

Darren T Oystreck

http://www.w3.org/2001/XMLSchema#string

Khaled K Abu-Amero

http://www.w3.org/2001/XMLSchema#string

Thomas M Bosley

http://www.w3.org/2001/XMLSchema#string

P2860

Molecular cloning of a human neuronal nicotinic acetylcholine receptor beta 3-like subunit

Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Nicotinic acetylcholine receptors: from structure to brain function

Okihiro syndrome is caused by SALL4 mutations

Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

Structural variation in the human genome and its role in disease.

P304

99-104

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.3109/13816810.2013.835431

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2013-09-03T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

256423604

http://www.w3.org/2001/XMLSchema#string

P698

24001015

http://www.w3.org/2001/XMLSchema#string

P921

Duane retraction syndrome

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

about

P2860

P2860

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921