Sacral agenesis: a pilot whole exome sequencing and copy number study.

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Urine retention as the first presentation of congenital absence of the sacrum: A case report of a rare clinical phenomenon

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

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description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Sacral agenesis: a pilot whole exome sequencing and copy number study.

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

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type

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

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P1476

Sacral agenesis: a pilot whole exome sequencing and copy number study.

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P2093

Elisa Merello

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

Guo Cheng

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

Laura Rodriguez

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

Manting So

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

Maria-Mercè Garcia-Barcelo

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

Pak C Sham

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

Patrizia De Marco

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

Robert M Porsch

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

Valeria Capra

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

P2860

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

Molecular cloning of a zinc finger autoantigen transiently associated with interphase nucleolus and mitotic centromeres and midbodies. Orthologous proteins with nine CXXC motifs highly conserved from nematodes to humans

Identification and characterization of beta V spectrin, a mammalian ortholog of Drosophila beta H spectrin

PKHDL1, a homolog of the autosomal recessive polycystic kidney disease gene, encodes a receptor with inducible T lymphocyte expression

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)

A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

Involvement of the HLXB9 homeobox gene in Currarino syndrome

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

P2888

s12881-016-0359-2

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scholarly article

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10.1186/S12881-016-0359-2

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Stacey S. Cherny

Desmond Campbell

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2016-12-22T00:00:00Z

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1026045592

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5178083

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

about

P2860

P2860

Sacral agenesis: a pilot whole exome sequencing and copy number study.

description

name

type

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P1433

P1476

P2093

P2860

P2888

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