HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.

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HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

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HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

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HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

@en

HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

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HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

@en

HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

@nl

P1476

HPPD: A newly recognized autos ...... s mapping to chromosome 14q31.

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Bronya J B Keats

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Srirangan Sampath

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Yves Lacassie

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P2860

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

Exome sequencing identifies the cause of a mendelian disorder

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome

SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome

SEL1L deficiency impairs growth and differentiation of pancreatic epithelial cells.

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas.

SEL1L a multifaceted protein playing a role in tumor progression.

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976-985

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scholarly article

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10.1002/AJMG.A.33971

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English

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155A

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2011-04-07T00:00:00Z

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51039381

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21480481

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