High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

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Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

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High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

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2012 nî lūn-bûn

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2012年学术文章

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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High Intellectual Function in ...... ve Microform Holoprosencephaly

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A L Gropman

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B D Solomon

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D E Pineda-Alvarez

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D W Hadley

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M J Willis

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M Muenke

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

The molecular genetics of holoprosencephaly.

Analysis of genotype-phenotype correlations in human holoprosencephaly.

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

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

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

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140-142

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scholarly article

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10.1159/000341373

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2012-07-26T00:00:00Z

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232742501

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23112757

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holoprosencephaly

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3473351

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High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

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P2860

P2860

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly

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P1476

P2093

P2860

P304

P31

P356

P433

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P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

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