An analysis of common isodisomic regions in five mUPD 16 probands - Wikidata - wikimedia - TriplyDB

An analysis of common isodisomic regions in five mUPD 16 probands

An analysis of common isodisomic regions in five mUPD 16 probands

http://www.wikidata.org/entity/Q35431863

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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

P2860

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P2860

An analysis of common isodisomic regions in five mUPD 16 probands

http://www.wikidata.org/entity/Q35431863

description

1999 nî lūn-bûn

@nan

1999 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի մարտին հրատարակված գիտական հոդված

@hy

1999年の論文

@ja

1999年論文

@yue

1999年論文

@zh-hant

1999年論文

@zh-hk

1999年論文

@zh-mo

1999年論文

@zh-tw

1999年论文

@wuu

name

An analysis of common isodisomic regions in five mUPD 16 probands

@ast

An analysis of common isodisomic regions in five mUPD 16 probands

@en

type

label

An analysis of common isodisomic regions in five mUPD 16 probands

@ast

An analysis of common isodisomic regions in five mUPD 16 probands

@en

prefLabel

An analysis of common isodisomic regions in five mUPD 16 probands

@ast

An analysis of common isodisomic regions in five mUPD 16 probands

@en

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P1433

Journal of Medical Genetics

P1476

An analysis of common isodisomic regions in five mUPD 16 probands

@en

P2093

Abu-Amero KK

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

Abu-Amero SN

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

Ali Z

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

Moore GE

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

Stanier P

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

P2860

Uniparental disomy as a mechanism for human genetic disease

Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction

European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy

Genomic imprinting related to prenatal diagnosis

A growth chart for premature and other infants.

Uniparental disomy for chromosome 16 in humans.

An audit of trisomy 16 in man.

Current topic: confined placental mosaicism and intrauterine fetal development.

Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16.

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns.

P304

204-207

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scholarly article

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3

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36

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P577

1999-03-01T00:00:00Z

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10204845

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P932

1734327

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