In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

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In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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In-depth investigations of ado ...... entify unique characteristics.

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In-depth investigations of ado ...... entify unique characteristics.

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In-depth investigations of ado ...... entify unique characteristics.

@en

In-depth investigations of ado ...... entify unique characteristics.

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In-depth investigations of ado ...... entify unique characteristics.

@en

In-depth investigations of ado ...... entify unique characteristics.

@nl

P1476

In-depth investigations of ado ...... entify unique characteristics.

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Audrey Thurm

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Beth Solomon

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Bethany Stokes

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Casey K Hadsall

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Debbie Baldwin

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Donald W Hadley

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Edythe Wiggs

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Elaine Stashinko

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Eric Levey

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Erich Roessler

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P2860

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Assessment of the deep gray nuclei in holoprosencephaly.

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.

Holoprosencephaly survival and performance.

Genetics of ventral forebrain development and holoprosencephaly.

Research challenges in central nervous system manifestations of inborn errors of metabolism

The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

P2888

gim.2017.68

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14-23

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scholarly article

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10.1038/GIM.2017.68

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English

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P478

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Maximilian Muenke

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2017-06-22T00:00:00Z

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P698

28640243

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P921

holoprosencephaly

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5763157

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