PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

@en

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

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PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

@en

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

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P1476

PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.

@en

P2093

Ahmed Alrumayyan

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

Amal Al Hashem

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Brahim Tabarki

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

Khalid Hundallah

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Marwan Nashabat

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P2860

Evidence for interaction between human PRUNE and nm23-H1 NDPKinase

Predicting deleterious amino acid substitutions

A method and server for predicting damaging missense mutations

MutationTaster evaluates disease-causing potential of sequence alterations

Glycogen synthase kinase 3 and h-prune regulate cell migration by modulating focal adhesions.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.

Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly.

P304

2329048X17752237

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P31

scholarly article

P356

10.1177/2329048X17752237

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P478

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P50

Majid Alfadhel

P577

2018-01-11T00:00:00Z

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P698

29372174

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P921

neurodevelopmental disorders

P932

5768269

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