Sage Journals: Discover world-class research

Retricted access

Research article

First published 2025

Socioeconomic factors and post-traumatic stress disorder in Polish caregivers of children with rare genetic conditions

Weronika Wojtowicz, Joan Deus Yela, Albert Fornieles Deu

Journal of Health Psychology

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Research article

First published 2012-12

Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders

Partha S. Ghosh, Neil R. Friedman, Debabrata Ghosh

Journal of Child Neurology

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Research article

First published 2025-8

TANGO-2 : A Rare Genetic Condition With Severe Clinical Presentation of Encephalopathy,Rhabdomyolysis,and Cardiac Rhythm Disorders in 2 Children

Khairunnisa Mukhtiar, Shahnaz Ibrahim, Quart-ul-Ain Khalid

Journal of Child Neurology

Free access

Research article

First published 2013-3

The Treatment of Wilson's Disease,a Rare Genetic Disorder of Copper Metabolism

Rupert Purchase

Science Progress

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Research article

First published 2023-12

Syndromic Craniosynostosis in a Child With Fontaine Progeroid Syndrome: A Rare Genetic Disorder and the Surgical Management

Thao Wolbert, Nate Teitler, Lauren Weis [...]

FACE

Open access

Research article

First published 2026-1

The interconnection of multiple sclerosis and neurofibromatosis type 1: A single institution retrospective study and systematic review

Danielle A Bazer, Grace E Tobin, Nyah Woller-Li [...]

Multiple Sclerosis Journal – Experimental,Translational and Clinical

Open access

Research article

First published 2024

Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability

Annelieke R. Müller, Nadia Y. van Silfhout, Bibiche den Hollander [...]

Therapeutic Advances in Rare Disease

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Research article

First published 2024-10

Exploring Genetic Testing for Rare Disorders of Obesity: Experience and Perspectives of Pediatric Weight Management Providers

Karyn J. Roberts, Eileen Chaves, Adolfo J. Ariza [...]

Childhood Obesity

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Research article

First published 2011-2

Generating sociability to drive science: Patient advocacy organizations and genetics research

Aaron Panofsky

Social Studies of Science

Open access

Research article

First published 2025-3

Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá,Colombia (2013–2023)

María C Martínez-Ávila, Eugenio Matijasevic-Arcila, Stefania Pantoja-Chica [...]

Journal of International Medical Research

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