Search results: Sage Journals

Restricted accessCase reportFirst published May, 2024

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 accessResearch articleFirst 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

Open accessCase reportFirst published 2022

Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

Erin Willis, Steven A. Moore, Mary O. Cox [...]

Child Neurology Open

Restricted accessResearch articleFirst published January, 2021

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

Restricted accessCase reportFirst published April, 2026

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 accessCase reportFirst published April, 2025

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 accessResearch articleFirst 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

Restricted accessResearch articleFirst published December, 2021

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

Mariano Martín, Juan Pablo Nicola

Thyroid®

Restricted accessOtherFirst published September, 2015

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

Open accessResearch articleFirst published January, 2025

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

Restricted accessCase reportFirst published May, 2024

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 accessResearch articleFirst 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

Open accessCase reportFirst published 2022

Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene

Erin Willis, Steven A. Moore, Mary O. Cox [...]

Child Neurology Open

Restricted accessResearch articleFirst published January, 2021

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

Restricted accessCase reportFirst published April, 2026

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 accessCase reportFirst published April, 2025

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 accessResearch articleFirst 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

Restricted accessResearch articleFirst published December, 2021

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

Mariano Martín, Juan Pablo Nicola

Thyroid®

Restricted accessOtherFirst published September, 2015

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

Open accessResearch articleFirst published January, 2025

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