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Retricted access

Case report

First published 2026-3

Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a Novel SULT4A1 Variant and Genetic Challenges

Mohammad Bdair, Orabi Hajjeh, Muhammad Takhman [...]

Journal of Child Neurology

Free access

Research article

First published 2016

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

Jaya Punetha, Akanchha Kesari, Prech Uapinyoying [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2024

Targeting mTOR signaling for the treatment of intrahepatic cholangiocarcinoma with TSC1/ARID1A mutations: a case report with an unexpected response

Clémentine Daugan, Romain Boidot, François Ghiringhelli [...]

Therapeutic Advances in Medical Oncology

Open access

Research article

First published 2020

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations

Lubomir Balabanski, Dimitar Serbezov, Dragomira Nikolova [...]

Technology in Cancer Research & Treatment

Open access

Case report

First published 2023

Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report

Mariam Fida, Israa Sinan, Alan Finan

Clinical Medicine Insights: Pediatrics

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Research article

First published 2021-03

Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients

Mehwish Zehravi, Mohsin Wahid, Junaid Ashraf [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2022-6

Glycogen Storage Disease Type IXb in a Neonate Caused by Two Mutations in PHKB Gene

Senthil Kumar Arumugam

Journal of Neonatology

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Research article

First published 2017-12

A Case of KCNQ2 -Associated Movement Disorder Triggered by Fever

Radhika Dhamija, Howard P. Goodkin, Russell Bailey [...]

Journal of Child Neurology

Retricted access

Research article

First published 2022-12

Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease

Xiangyu Zhao, Chunhai Gao, Lin Li [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2020-10

Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome

Ruixue Cao, Sijie Liu, Weiran Chai [...]

DNA and Cell Biology

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