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Research article

First published 2023-3

Homozygous-Recessive Characteristics as a Biomarker of Predisposition for COVID-19

Darko Grujičić, Ljiljana Mirkov, Dragić Banković [...]

Clinical Nursing Research

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Research article

First published 1967-4

The Schizophrenia Gene and Social Evolution

Robert E. Kuttner, Albert B. Lorincz, Donald A. Swan

Psychological Reports

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Case report

First published 2025-5

Johanson–Blizzard’s Syndrome with a Novel Mutation in UBR1 Gene

Nasreen Banu S., Naga Chaitanya Vinnakota, Lavanya Alluwada [...]

Journal of Neonatology

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Other

First published 2008-09

Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease

Aziza K. Chedrawi, Ayman Ali, Zuhair N. Al Hassnan [...]

Journal of Child Neurology

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Research article

First published 1966-10

Metabolic and Endocrine Function in Whirler Mice

A. S. Weltman, A. M. Sackler

Experimental Biology and Medicine

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Research article

First published 2018-11

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

Leen Hijazi, Amna Kashgari, Majid Alfadhel

Journal of Child Neurology

Open access

Case report

First published 2025

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child,With Brief Literature Review of 44 Cases

Reema Iskafi, Bahaa AbuRahmeh, Roa’a Aljuneidi [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 2002-09

Founder Mutation R245H of Sanfilippo Syndrome Type A in the Cayman Islands

Peter L. Rady, Sankar Surendran, Ahn T. Vu [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2026

Expanding the Genotypic Spectrum of SLC18A2 Mutation–Related Disorder—A Novel Mutation and Review of Literature

Sophia Brewer, Praveen Kumar Ramani, Kapil Arya

Journal of Child Neurology

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Research article

First published 2021-9

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

Özlem Akgün-Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran [...]

Journal of Child Neurology

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