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Case report

First published 2019-10

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

Jennifer Hague, Philip Twiss, Zoe Mead [...]

Pediatric and Developmental Pathology

Open access

Review article

First published

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy

Mathieu Cerino, Svetlana Gorokhova, Anthony Béhin [...]

Journal of Neuromuscular Diseases

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Research article

First published 2024-11

Novel pathogenic variants of SLC38A8 gene and literature review

Xiaofang Ren, Lijuan Huang, Shan Cheng [...]

European Journal of Ophthalmology

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Case report

First published 2023-7

Alström syndrome: Two clinical cases with two novel pathogenic variants

Juan C Herranz-Heras, Ana Barceló, Juan F Quesada-Espinosa [...]

European Journal of Ophthalmology

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Brief report

First published 2022-08

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism

Monica Malheiros França, Lucy Reeve, Alexandra M. Dumitrescu [...]

Thyroid®

Open access

Research article

First published 2023

Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene

Tarek Owaidah, Salwa Bakr, Nouf Al-Numair [...]

Clinical and Applied Thrombosis/Hemostasis

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Research article

First published 2026-1

Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease

Diego E García-Chialva, Tatiana Itzcovich, Diego Cifarelli [...]

Journal of Alzheimer’s Disease

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Case report

First published 2026-3

Molybdenum Cofactor Deficiency with a Novel Pathogenic Variant in the Molybdenum Cofactor Synthesis 1 (MOCS1): A Case Report

Premadasa MGTW, Monica AH, Emmett E [...]

Journal of Neonatology

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Research article

First published 2020-03

A Novel Amplification-Refractory Mutation System-PCR Strategy to Screen MT-TL1 Pathogenic Variants in Patient Repositories

Bengisu Kevser Bulduk, Hasan Basri Kiliç, Can Ebru Bekircan-Kurt [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2025-1

Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases

Mohamed Abouseif Badawi, Amal Alkhoori, Anoud Saeed Alkaabi [...]

Pediatric and Developmental Pathology

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