Search results: Sage Journals

Open accessCase reportFirst 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 accessCase reportFirst published November, 2013

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

Restricted accessOtherFirst published November, 2007

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

Restricted accessResearch articleFirst 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 accessResearch articleFirst published July, 2013

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

Free accessCase reportFirst published July, 2014

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

Restricted accessResearch articleFirst published May, 2017

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

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

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published May, 2015

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 accessCase reportFirst published September, 2019

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

Restricted accessResearch articleFirst published July, 2026

ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations

Yan Lei, Yanchun Wang, Xiaoning Liu [...]

Genetic Testing and Molecular Biomarkers

Open accessCase reportFirst 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 accessCase reportFirst published November, 2013

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

Restricted accessOtherFirst published November, 2007

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

Restricted accessResearch articleFirst 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 accessResearch articleFirst published July, 2013

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

Free accessCase reportFirst published July, 2014

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

Restricted accessResearch articleFirst published May, 2017

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

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

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published May, 2015

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 accessCase reportFirst published September, 2019

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

Restricted accessResearch articleFirst published July, 2026

ICF Syndrome in Chinese Children: Four Case Reports with Novel Mutations

Yan Lei, Yanchun Wang, Xiaoning Liu [...]

Genetic Testing and Molecular Biomarkers