Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

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An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

P2860

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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name

Extending the mutation spectru ...... e mutations in the WDR73 gene.

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Extending the mutation spectru ...... e mutations in the WDR73 gene.

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Extending the mutation spectru ...... e mutations in the WDR73 gene.

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Extending the mutation spectru ...... e mutations in the WDR73 gene.

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Extending the mutation spectru ...... e mutations in the WDR73 gene.

@en

Extending the mutation spectru ...... e mutations in the WDR73 gene.

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P1476

Extending the mutation spectru ...... e mutations in the WDR73 gene.

@en

P2093

Basak Rosti

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

Damir Musaev

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

Esra Dikoglu

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

Jordan C Sese

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

Keith K Vaux

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Marilyn C Jones

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Mary J Harbert

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Nawal Makhseed

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

Rasim O Rosti

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P2860

Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

Exome sequencing can improve diagnosis and alter patient management.

Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.

Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.

Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome.

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.

Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome.

Galloway-Mowat syndrome in Taiwan.

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992-998

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scholarly article

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10.1002/AJMG.A.37533

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English

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170A

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Maha Zaki

Ghada M Abdel-Salam

Joseph G Gleeson

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2016-01-05T00:00:00Z

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27001912

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5011457

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

about

P2860

P2860

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

description

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