Sage Journals: Discover world-class research

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Case report

First published 2024-5

Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Przemyslaw Szafranski, Silvia Patrizi, Tomasz Gambin [...]

Pediatric and Developmental Pathology

Open access

Research article

First published 2022

Screening of Pathogenic Missense Single Nucleotide Variants From LHPP Gene Associated With the Hepatocellular Carcinoma: An In silico Approach

Malik Siddique Mahmood, Maryam Afzal, Hina Batool [...]

Bioinformatics and Biology Insights

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Research article

First published 2021-01

In Silico Tools and Approaches for the Prediction of Functional and Structural Effects of Single-Nucleotide Polymorphisms on Proteins: An Expert Review

Metin Yazar, Pemra Özbek

OMICS: A Journal of Integrative Biology

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Research article

First published 2025

A Case Report on the Use of Doxazosin to Improve Outcomes in a Patient With a KCNT1 Genetic Variation

Abigail Petrecca, Evelynne Waugh, James Herbst [...]

Journal of Child Neurology

Open access

Case report

First published 2025-4

Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report

Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Elius Paz-Cruz [...]

Science Progress

Open access

Research article

First published 2023

Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer

Souad Kartti, El Mehdi Bouricha, Oumaima Zarrik [...]

Bioinformatics and Biology Insights

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Research article

First published 2021-12

Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism

Mariano Martín, Juan Pablo Nicola

Thyroid®

Open access

Research article

First published 2025-1

Isolation of the feline herpesvirus-1 modified live vaccine strain F2 from one of four cats with dendritic ulcers

Yasuharu Suga, Rikio Kirisawa

Journal of Feline Medicine and Surgery

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Other

First published 2015-9

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients with Orofacial Clefting

Agnieszka Charzewska, Ewa Obersztyn, Dorota Hoffman-Zacharska [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2017-12

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Maylis Lebeault, Stéphane Pinson, Marine Guillaud-Bataille [...]

Thyroid®

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