Sage Journals: Discover world-class research

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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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Review article

First published 2007-1

Hereditary Gingival Fibromatosis: Characteristics and Novel Putative Pathogenic Mechanisms

L. Häkkinen, A. Csiszar

Journal of Dental Research

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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®

Free access

Research article

First published 2025-1

A Novel Framework for Internal Responses to Detection of Pathogens in Wastewater by Public Health Agencies

Komal Sheth, Kaavya Domakonda, Kirstin Short [...]

Public Health Reports®

Free access

Research article

First published 2004-8

A Novel Genomics Approach for the Identification of Drug Targets in Pathogens,with Special Reference to Pseudomonas Aeruginosa

Kishore R. Sakharkar, Meena K. Sakharkar, Vincent T.K. Chow

In Silico Biology

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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 2011-09

A Novel Pathogenic Nonsense Triple-Nucleotide Mutation in the Low-Density Lipoprotein Receptor Gene and Its Clinical Correlation with Familial Hypercholesterolemia

Muhammad Ajmal, Waqas Ahmed, Naveed Akhtar [...]

Genetic Testing and Molecular Biomarkers

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