Brain calcifications and PCDH12 variants.

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A commentary on band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

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Brain calcifications and PCDH12 variants.

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2017 nî lūn-bûn

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2017年論文

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2017年論文

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name

Brain calcifications and PCDH12 variants.

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Item

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Brain calcifications and PCDH12 variants.

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Brain calcifications and PCDH12 variants.

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P1476

Brain calcifications and PCDH12 variants.

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Adi Aran

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Alma Rosa Lopez

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Anne Boland

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Anne-Claire Richard

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Daniel H Geschwind

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Denis Moura

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Dennis W Dickson

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Eliana Marisa Ramos

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Gaël Nicolas

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Giovanni Coppola

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Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes

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An anatomically comprehensive atlas of the adult human brain transcriptome

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Susceptibility-weighted imaging: current status and future directions.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

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e166

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scholarly article

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10.1212/NXG.0000000000000166

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Rosa Rademakers

Ephrat Levy-Lahad

Andrea Legati

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2017-07-26T00:00:00Z

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28804758

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Brain calcifications and PCDH12 variants.

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P2860

P2860

Brain calcifications and PCDH12 variants.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932