A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.
about
Human genetic disorders and knockout mice deficient in glycosaminoglycanA male with unilateral microphthalmia reveals a role for TMX3 in eye developmentCombined analysis with copy number variation identifies risk loci in lung cancer.Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.Quantitative genomics of 30 complex phenotypes in Wagyu x Angus F₁ progeny.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycansBiosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Characteristics of rare and private deletions identified in phenotypically normal individuals.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.CCDC102B confers risk of low vision and blindness in high myopia.
P2860
Q26995332-C8AF5138-6939-4116-BB1B-EF6C84F6A118Q33582105-2FF67B06-3C01-40A4-BE7C-0AB1270DEADEQ33908705-EC6BD81D-36B5-415C-94B9-4C8BA8B59FAEQ34429178-2822E8C4-EB50-4BBA-9AFF-F0106874E7DFQ34540729-BB53FC9E-8265-4621-B495-5CBBFCF40AC9Q36063717-D70595B6-FA81-4D60-A838-3850A2177F96Q38086228-C4CE3C66-63CF-41B3-A8E5-604278AD86ACQ38675062-2A99C093-69D8-4568-A3AD-124E3C2A1CAEQ41127751-55DD49EC-E7AB-4B89-853A-C324C0BBE64BQ41440531-FE591994-F106-41D2-AD63-3709EC19B137Q55387267-659C25B7-4954-4860-B6CB-FFD054513755
P2860
A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect.
description
2010 nî lūn-bûn
@nan
2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
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2010年学术文章
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2010年學術文章
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2010年學術文章
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name
A maternally inherited chromos ...... for the diaphragmatic defect.
@en
A maternally inherited chromos ...... for the diaphragmatic defect.
@nl
type
label
A maternally inherited chromos ...... for the diaphragmatic defect.
@en
A maternally inherited chromos ...... for the diaphragmatic defect.
@nl
prefLabel
A maternally inherited chromos ...... for the diaphragmatic defect.
@en
A maternally inherited chromos ...... for the diaphragmatic defect.
@nl
P2093
P2860
P356
P1476
A maternally inherited chromos ...... for the diaphragmatic defect.
@en
P2093
Ali Moshrefi
Allen Delaney
Anne M Slavotinek
Justin Chen
Nelson Lopezjimenez
P2860
P304
P356
10.1002/AJMG.A.33341
P407
P577
2010-04-01T00:00:00Z