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Research article

First published 1995-1

Kabuki Syndrome: Underdiagnosed Recognizable Pattern in Cleft Palate Patients

Leah W. Burke, Marilyn C. Jones

The Cleft Palate Craniofacial Journal

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Other

First published 1999-11

Interstitial Deletion of 14q,46,XY,del (14) (q24.3q32.1) Associated With Status Nonepileptic Myoclonia and Delayed Myelination

Jiro Ono, Hiroki Kurahashi, Takeshi Okinaga [...]

Journal of Child Neurology

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Case report

First published 2024-9

Newly recognized orbital malformations in kabuki syndrome: A case report

Pengsen Wu, Cheng Xiong, Jing Rao [...]

European Journal of Ophthalmology

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Case report

First published 2022-1

Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature

Kaya Narimatsu, Akihiko Iida, Takanori Kobayashi

The Cleft Palate Craniofacial Journal

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Other

First published 2008-11

Novel Mutations in GJA1 Cause Oculodentodigital syndrome

A. Fenwick, R.J. Richardson, J. Butterworth [...]

Journal of Dental Research

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Research article

First published 2009-11

Dental Evaluation of Kabuki Syndrome Patients

Camila Santos Teixeira, Claudia Renata Leite Silva, Rachel Sayuri Honjo [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2001-11

Microtia Associated with the Kabuki (Niikawa-Kuroki) Syndrome

Jeffrey M. Bumpous, Chin-To Fong, Melissa Wang [...]

Otolaryngology–Head and Neck Surgery

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Research article

First published 1993-3

Long Term Results Following Immediate Reconstruction of Orbital Fractures: A Critical Morphometric Analysis

Meenakshi Dawar, Oleh M Antonyshyn

Plastic Surgery

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Research article

First published 2024-05

The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey

Cisem Mail, Sinem Yalcintepe, Damla Eker [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2026

A Newborn With Down–Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation

Nancy Arias-González, Daniel A. Balikov, Marcela Ciccioli [...]

Journal of VitreoRetinal Diseases

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