Sage Journals: Discover world-class research

Open access

Case report

First published 2025

A rare epidermal growth factor receptor T790M/cis-C797S/L718Q compound mutation in a lung adenocarcinoma patient who did not derive any benefit from combination therapy with afatinib and bevacizumab

Xiaopeng Meng, Jingyi Liu, Xiaohui Wu [...]

Sage Open Medical Case Reports

Free access

Case report

First published 2013-11

A patient with the rare alpha-1-antitrypsin variant Z bristol in compound heterozygosity with the Z mutation

KJ Bates, M Puxley, M Hill [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted access

Other

First published 2007-11

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang [...]

Journal of Child Neurology

Retricted access

Research article

First published

Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish Patient with Beta-Thalassemia Major

Ibrahim Keser, Esra Manguoglu, Ozlem Kayisli [...]

Genetic Testing and Molecular Biomarkers

Free access

Case report

First published 2014-7

Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia

Amanda J Hooper, Jagadeesh Kurtkoti, Ian Hamilton-Craig [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Free access

Research article

First published 2013-7

Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene

Martin Overgaard, Claus Lohman Brasen, Dea Svaneby [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted access

Research article

First published 2017-05

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss

Rongrong Wang, Shirui Han, Amjad Khan [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2015-5

Novel Mutations in LRTOMT Associated With Moderate Progressive Hearing Loss in Autosomal Recessive Inheritance

Aya Ichinose, Hideaki Moteki, Mitsuru Hattori [...]

Annals of Otology,Rhinology & Laryngology

Open access

Case report

First published 2019-9

Complex medical history of a patient with a compound heterozygous mutation in C1QC

R Lubbers, L J J Beaart-van de Voorde, K van Leeuwen [...]

Lupus

Open access

Article commentary

First published 2019

Proposed Therapies for Pantothenate-Kinase-Associated Neurodegeneration

Suzanne Jackowski

Neuroscience Insights

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