Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

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Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

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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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Kaufman oculocerebrofacial syn ...... es in four unrelated patients.

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Kaufman oculocerebrofacial syn ...... es in four unrelated patients.

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label

Kaufman oculocerebrofacial syn ...... es in four unrelated patients.

@en

Kaufman oculocerebrofacial syn ...... es in four unrelated patients.

@nl

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Kaufman oculocerebrofacial syn ...... es in four unrelated patients.

@en

Kaufman oculocerebrofacial syn ...... es in four unrelated patients.

@nl

P1476

Kaufman oculocerebrofacial syn ...... res in four unrelated patients

@en

P2093

Anna Altmann

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Leyli Senturk

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Lina Basel-Vanagaite

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Marianne McGuire

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Olga Calabrese

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Rüstem Yilmaz

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Suneeta Madan-Khetarpal

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P2860

Structure of the HECT:ubiquitin complex and its role in ubiquitin chain elongation

Kaufman oculocerebrofacial syndrome: case report

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation

Two additional cases of the Ohdo blepharophimosis syndrome.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).

The role of ubiquitylation in nerve cell development.

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187-193

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scholarly article

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10.1002/AJMG.A.38538

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English

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176

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Umut Altunoglu

Guntram Borck

Katalin Szakszon

P577

2017-11-21T00:00:00Z

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P698

29160006

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