Allele sharing on chromosome 11q13 in sibs with asthma and atopy

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

Journal of neuromuscular diseases·2025

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

BMC neurology·2024

Oral ribose supplementation in dystroglycanopathy: A single case study.

JIMD reports·2024

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Journal of the European Academy of Dermatology and Venereology : JEADV·2024

Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype.

Alimentary pharmacology & therapeutics·2017

Perinatal death investigations: What is current practice?

Seminars in fetal & neonatal medicine·2017

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Lancet (London, England)·2026

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Perioperative durvalumab plus fluorouracil, leucovorin, oxaliplatin, and docetaxel for resectable gastric and gastro-oesophageal junction adenocarcinoma (MATTERHORN): final results of overall survival and event-free survival by pathological response in a global, randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Lancet (London, England)·2026

Genome-wide pQTL mapping in human skin identifies specific genetic regulators and mechanistic links to skin disorders.

Nature communications·2026

Determinants of functional burden pleiotropy and gene dosage responses across human traits.

Nature communications·2026

Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

Clinical laboratory·2026

Audiological Features in Pendred Syndrome: A Scoping Review.

The journal of international advanced otology·2026

Synergistic Interaction Between PEAR1-FGB and the Dominant Role of ABCB1 in Thrombosis Risk: A SHAP and MDR-Based Study in Vietnamese Pedigrees.

Journal of blood medicine·2026

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Allele sharing on chromosome 11q13 in sibs with asthma and atopy

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Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

Oral ribose supplementation in dystroglycanopathy: A single case study.

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Risk factors for thiopurine-induced myelosuppression and infections in inflammatory bowel disease patients with a normal TPMT genotype.

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Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Genome-wide pQTL mapping in human skin identifies specific genetic regulators and mechanistic links to skin disorders.

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Discovering common and population-specific QTLs for leaf rust resistance in different Barley populations.

A Normal Phenotype Case of a Small Supernumerary Marker Chromosome Chimeric Carrier with 12p11.21p11.21 Duplication.

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Allele sharing on chromosome 11q13 in sibs with asthma and atopy

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