Sage Journals: Discover world-class research

Open access

Article commentary

First published 2018

CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?

Giorgia Canali, Laurence Goutebroze

Neuroscience Insights

Retricted access

Research article

First published 2020-2

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem [...]

Journal of Child Neurology

Retricted access

Research article

First published 2023-03

A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip

Dan Yang, Zaiwei Zhou, Shiqi Wang [...]

Genetic Testing and Molecular Biomarkers

Open access

Brief report

First published 2021-11-09

A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer’s Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor

Haitian Nan, Yeon-Jeong Kim, Mai Tsuchiya [...]

Journal of Alzheimer’s Disease

Retricted access

Research article

First published 2021-12

Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism

Mariano Martín, Juan Pablo Nicola

Thyroid®

Open access

Case report

First published 2019

CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma

Farhad Salehzadeh, Manuchehr Barak, Saied Hosseiniasl [...]

Clinical Medicine Insights: Case Reports

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Case report

First published 2026-1

Novel Bilateral Geographic Atrophy Phenotype Associated With CRX Mutation

Cory A. Christensen, Neha Gupta, Mark P. Breazzano

Journal of VitreoRetinal Diseases

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Research article

First published 2019-05

A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita

Ahmad Almatrafi, Fatima Alfadhli, Yasir Naseem Khan [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2023-1-3

LAMA2 -Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

Tanya Stojkovic, Marion Masingue, Corinne Métay [...]

Journal of Neuromuscular Diseases

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Case report

First published 2022-3

Intrahepatic Cholestasis,Refractory Epilepsy,Skeletal Dysplasia,Endocrine Failure,and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11

Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R Patel [...]

Pediatric and Developmental Pathology

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