Sage Journals: Discover world-class research

Open access

Research article

First published 2015-9

Novel variants detected in AGT gene among patients with essential hypertension

G Padma, Bh Charita, N Swapna [...]

Journal of the Renin-Angiotensin-Aldosterone System

Retricted access

Case report

First published 2020-10

Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

Mehdi Tavakoli, Amy M. Huang, Linda Cernichiaro-Espinosa [...]

Journal of VitreoRetinal Diseases

Open access

Case report

First published 2022-5

Characterization of a novel HBB:c.194dup variant of the β -globin gene combined with six alpha genes

Jungao Huang, Le Ding, Junkun Chen [...]

Journal of International Medical Research

Open access

Case report

First published 2022-1

Cochlear implantation in a Chinese patient with a novel frameshift variant in POU3F4 gene and incomplete partition type III: a case report

Lanye Hu, Jie Chen, Ruen Yao [...]

Journal of International Medical Research

Open access

Case report

First published 2019

A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

Inder Pal Singh Kochar, Aashish Sethi, Ayesha Ahamad

Clinical Medicine Insights: Case Reports

Retricted access

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

Research article

First published 2019-12

A novel LOXHD1 variant in a Chinese couple with hearing loss

Chuan Zhang, Shengju Hao, Yali Liu [...]

Journal of International Medical Research

Open access

Research article

First published 2023-05

Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants

Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires [...]

Journal of Central Nervous System Disease

Open access

Case report

First published 2022-7

A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy

Aino Maaria Jaakkola, Petri J Järventausta, Reetta-Stiina Järvinen [...]

European Journal of Ophthalmology

Retricted access

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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