Lower lip pits: van der woude or kabuki syndrome? - Wikidata - wikimedia - TriplyDB

Lower lip pits: van der woude or kabuki syndrome?

Lower lip pits: van der woude or kabuki syndrome?

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Tooth agenesis and orofacial clefting: genetic brothers in arms?

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Lower lip pits: van der woude or kabuki syndrome?

http://www.wikidata.org/entity/Q50687968

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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Lower lip pits: van der woude or kabuki syndrome?

@en

Lower lip pits: van der woude or kabuki syndrome?

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type

label

Lower lip pits: van der woude or kabuki syndrome?

@en

Lower lip pits: van der woude or kabuki syndrome?

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prefLabel

Lower lip pits: van der woude or kabuki syndrome?

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Lower lip pits: van der woude or kabuki syndrome?

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Cleft Palate: Craniofacial Journal

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Lower lip pits: van der woude or kabuki syndrome?

@en

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Fen-Hwa Wong

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

Ferri P David-Paloyo

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

Ju-Li Lin

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

Lun-Jou Lo

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

Xuecai Yang

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

Yah-Huei Wu-Chou

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P2860

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

A mutation screen in patients with Kabuki syndrome.

A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.

Kabuki syndrome: a review.

Kabuki syndrome: a review study of three hundred patients.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

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729-734

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scholarly article

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10.1597/12-258

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6

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257309142

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24088119

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