Male patients affected by mosaic PCDH19 mutations: five new cases.

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δ-Protocadherins: Organizers of neural circuit assembly.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.

P2860

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P2860

Male patients affected by mosaic PCDH19 mutations: five new cases.

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http://www.wikidata.org/entity/Q38698169

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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年學術文章

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2017年學術文章

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Male patients affected by mosaic PCDH19 mutations: five new cases.

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Male patients affected by mosaic PCDH19 mutations: five new cases.

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Male patients affected by mosaic PCDH19 mutations: five new cases.

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P1476

Male patients affected by mosaic PCDH19 mutations: five new cases

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A I Kistemaker

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B P C Koeleman

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C Peeters-Scholte

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E H Brilstra

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G M S Mancini

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H A Newman

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K Hodges

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M J A van Kempen

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M Kriek

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P2860

Protocadherins control the modular assembly of neuronal columns in the zebrafish optic tectum.

Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain

Epilepsy and mental retardation limited to females: an under-recognized disorder

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

P2888

s10048-017-0517-5

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scholarly article

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10.1007/S10048-017-0517-5

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Dick Lindhout

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Iris M de Lange

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2017-07-01T00:00:00Z

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Male patients affected by mosaic PCDH19 mutations: five new cases.

about

P2860

P2860

Male patients affected by mosaic PCDH19 mutations: five new cases.

description

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P1433

P1476

P2093

P2860

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P433

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P577

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P932