Sage Journals: Discover world-class research

Retricted access

Research article

First published 2003-7

Shprintzen-Goldberg Syndrome: Case Report

N. Topouzelis, E. Markovitsi, K. Antoniades

The Cleft Palate Craniofacial Journal

Open access

Case report

First published 2016

Lujan–Fryns Syndrome (LFS): A Unique Combination of Hypernasality,Marfanoid Body Habitus,and Neuropsychiatric Issues,Presenting as Acute-Onset Dysphagia

Abidullah Khan, Mohammad Humayun, Iqbal Haider [...]

Clinical Medicine Insights: Case Reports

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Research article

First published 2015-3

An Additional Patient With 3q27.3 Microdeletion Syndrome

Marco Castori, Irene Bottillo, Luigi Laino [...]

Journal of Child Neurology

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Brief report

First published 2021-02

A Novel Double RET E768D/L790F Mutation Associated with a MEN2B-Like Phenotype

Annie Mathew, Soeren Latteyer, Karin Frank-Raue [...]

Thyroid®

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Research article

First published 2008-06

The Roles of Two Novel FBN1 Gene Mutations in the Genotype–Phenotype Correlations of Marfan Syndrome and Ectopia Lentis Patients with Marfanoid Habitus

Dan Li, Jie Yu, Feng Gu [...]

Genetic Testing and Molecular Biomarkers

Open access

Review article

First published 2013

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

Ali Al Kaissi, Elisabeth Zwettler, Rudolf Ganger [...]

Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders

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Case report

First published 2006-12

Recurrent Aortic Aneurysms following Thoracic Aortic Stent-Graft Repair in a Patient with Cogan Syndrome

Jang Wen Su, Andrea Hsiu Ling Low, Kiang Hiong Tay [...]

Journal of Endovascular Therapy

Search results

Shprintzen-Goldberg Syndrome: Case Report

Lujan–Fryns Syndrome (LFS): A Unique Combination of Hypernasality,Marfanoid Body Habitus,and Neuropsychiatric Issues,Presenting as Acute-Onset Dysphagia

An Additional Patient With 3q27.3 Microdeletion Syndrome

A Novel Double RET E768D/L790F Mutation Associated with a MEN2B-Like Phenotype

The Roles of Two Novel FBN1 Gene Mutations in the Genotype–Phenotype Correlations of Marfan Syndrome and Ectopia Lentis Patients with Marfanoid Habitus

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

Recurrent Aortic Aneurysms following Thoracic Aortic Stent-Graft Repair in a Patient with Cogan Syndrome