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Articles (33)

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1-10 of 33 results for X-linked dominant syndrome

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Select article: Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-Linked Dominant Chondrodysplasia Punctata

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Research article

First published 2008-3

Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-Linked Dominant Chondrodysplasia Punctata

Dinesh Rakheja, Richard L. Boriack

Pediatric and Developmental Pathology

Select article: A Severely Affected Female Infant with X-Linked Dominant Chondrodysplasia Punctata: A Case Report and a Brief Review of the Literature

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Case report

First published 2007-3

A Severely Affected Female Infant with X-Linked Dominant Chondrodysplasia Punctata: A Case Report and a Brief Review of the Literature

Dinesh Rakheja, Charles P. Read, David Hull [...]

Pediatric and Developmental Pathology

Select article: Oculo-Cerebro-Renal Syndrome

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Other

First published 1972-02

Oculo-Cerebro-Renal Syndrome

Grace E. Holinies, Virginia Tucker

Clinical Pediatrics

Select article: Disorders of sterol biosynthesis

Open access

Research article

First published 2016-11-7

Disorders of sterol biosynthesis

Larissa V. Furtado, Richard I. Kelley, John M. Opitz

Translational Science of Rare Diseases

Select article: Diagnosis and Molecular Biology of Hereditary Hearing Loss

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Research article

First published 1995-5

Diagnosis and Molecular Biology of Hereditary Hearing Loss

Richard J.H. Smith, Kenneth M. Grundfast

Otolaryngology–Head and Neck Surgery

Select article: Expression of Normal or Mutated X-Linked BCOR Transcripts in OFCD iPSCs

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Research article

First published 2020-2

Expression of Normal or Mutated X-Linked BCOR Transcripts in OFCD iPSCs

I. El Ayachi, X.-Y. Zou, X. Yan [...]

Journal of Dental Research

Select article: Goltz Syndrome Combined with Triple X Syndrome,a Case Report

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Research article

First published 2024-3

Goltz Syndrome Combined with Triple X Syndrome,a Case Report

Itaru Sone, Takayuki Honda, Minoru Sakuraba [...]

The Cleft Palate Craniofacial Journal

Select article: Molecular Approaches to the Rett Syndrome Gene

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Other

First published 1999-12

Molecular Approaches to the Rett Syndrome Gene

N. Carolyn Schanen

Journal of Child Neurology

Select article: CD40 Ligand Expression in Immunodeficiency with Hyper IgM and Congenital Rubella Syndrome

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Research article

First published 2000-9

CD40 Ligand Expression in Immunodeficiency with Hyper IgM and Congenital Rubella Syndrome

Janet Beausoleil, Richard Schwarz, Stephen McGEADY

Pediatric Allergy,Immunology,and Pulmonology

Select article: Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

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Research article

First published 2002-7

Extensive Facial Clefting in a Patient with Goltz Syndrome: Multidisciplinary Treatment of a Previously Unreported Association

Jeffrey A. Ascherman, Sean L. Knowles, Kenneth C. Troutman

The Cleft Palate Craniofacial Journal

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