Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. - Wikidata - wikimedia - TriplyDB

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

http://www.wikidata.org/entity/Q33656418

about

Cerebellar development and disease Blake's pouch cyst and Werdnig-Hoffmann disease: Report of a new association and review of the literature.Looking at cerebellar malformations through text-mined interactomes of mice and humans Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis.Occipital meningoencephalocele with Cleft Lip, Cleft Palate and Limb Abnormalities- A Case Report.Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles A developmental and genetic classification for midbrain-hindbrain malformations.Hydrocephalus in Dandy-Walker malformation.Developmental disorders of the midbrain and hindbrain.Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

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P2860

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

http://www.wikidata.org/entity/Q33656418

description

2008 nî lūn-bûn

@nan

2008 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2008 թվականի հունվարին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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Linkage to chromosome 2q36.1 i ...... nce for genetic heterogeneity.

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Linkage to chromosome 2q36.1 i ...... nce for genetic heterogeneity.

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Linkage to chromosome 2q36.1 i ...... nce for genetic heterogeneity.

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Linkage to chromosome 2q36.1 i ...... nce for genetic heterogeneity.

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Alexander G Bassuk

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Karim Ouahchi

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P2860

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Detection of large-scale variation in the human genome

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

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