MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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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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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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P1476

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

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P2093

Christine Bole-Feysot

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Jeanne Amiel

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Marc Bras

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Myriam Oufadem

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Nathalie Boddaert

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Patrick Nitschké

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Stanislas Lyonnet

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Véronique Abadie

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P2860

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.

The roles of mediator complex in cardiovascular diseases.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Further confirmation of the MED13L haploinsufficiency syndrome.

Redefining the MED13L syndrome

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator

Mutations in MED12 cause X-linked Ohdo syndrome

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181-186

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scholarly article

P356

10.1002/AJMG.A.38536

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P407

English

P433

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P478

176

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P50

Christopher T Gordon

Olivier Alibeu

Maya Chopra

P577

2017-11-21T00:00:00Z

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P698

29159987

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