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Articles (10)

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1-10 of 10 results for chondrodysplasia punctata

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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: Premature Infant with Chondrodysplasia Punctata Secondary to Maternal Autoimmune Disease

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Case report

First published 2025-11

Premature Infant with Chondrodysplasia Punctata Secondary to Maternal Autoimmune Disease

Radhika Maddali, Chie Naito, Palanikumar Balasundaram [...]

Journal of Neonatology

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: Multivoxel Magnetic Resonance Spectroscopy in a Rhizomelic Chondrodysplasia Punctata Case

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Other

First published 2005-08

Multivoxel Magnetic Resonance Spectroscopy in a Rhizomelic Chondrodysplasia Punctata Case

Ahmet Siğirci, Alpay Alkan, Ramazan Kutlu [...]

Journal of Child Neurology

Select article: Chondrodysplasia Punctata: Clinical and Imaging Impact on Spine

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Abstract

First published 2015-5

Chondrodysplasia Punctata: Clinical and Imaging Impact on Spine

Luis Rene Sayago, Ida Alejandra Francheri, Carlos A. Tello [...]

Global Spine Journal

Select article: Calcification in Chondrodysplasia Punctata

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Research article

First published 1978-1

Calcification in Chondrodysplasia Punctata

G. Theander, H. Pettersson

Acta Radiologica

Select article: Conradi-Hunerman Syndrome

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Research article

First published 1987-9

Conradi-Hunerman Syndrome

Marcelo Hochman, Willard E. Fee

Annals of Otology,Rhinology & Laryngology

Select article: Mixed connective tissue disease in pregnancy: A case series and systematic literature review

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Research article

First published 2019-3

Mixed connective tissue disease in pregnancy: A case series and systematic literature review

Marie-Lou Tardif, Michèle Mahone

Obstetric Medicine

Select article: Association Between Peroxisomal Biogenesis Factor 7 and Autism Spectrum Disorders in a Korean Population

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Research article

First published 2012-10

Association Between Peroxisomal Biogenesis Factor 7 and Autism Spectrum Disorders in a Korean Population

MyungJa Ro, JungWon Park, Min Nam [...]

Journal of Child Neurology

Select article: Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease

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Review article

First published 2026

Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease

Shannon Y. Zhou, Lily Holden, Melody Colon [...]

Obstetric Medicine

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