Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

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Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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Early detection of bilateral c ...... of severe congenital disease.

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Early detection of bilateral c ...... of severe congenital disease.

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Early detection of bilateral c ...... of severe congenital disease.

@en

Early detection of bilateral c ...... of severe congenital disease.

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Early detection of bilateral c ...... of severe congenital disease.

@en

Early detection of bilateral c ...... of severe congenital disease.

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P1476

Early detection of bilateral c ...... n of severe congenital disease

@en

P2093

Dagmar Raskova

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Marie Trkova

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Petra Liskova

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Vera Becvarova

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P2860

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Assessments of corneal endothelial cell density in growing children and its relationship to horizontal corneal diameter.

Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Genetics of crystallins: cataract and beyond.

Copy number variants, diseases and gene expression.

RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

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1843-1848

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scholarly article

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10.1002/AJMG.A.37685

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English

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170

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P577

2016-06-03T00:00:00Z

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27256633

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