Population screening for carrier of recessively inherited disorders

A review of key terminology and definitions used for birth defects globally.

Journal of community genetics·2023

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Journal of community genetics·2018

Mitochondrial DNA polymorphism in three Brazilian Indian tribes.

American journal of human biology : the official journal of the Human Biology Council·2017

Biological variability in a migrating isolate, the Tokelau Islands: Child growth in different environments.

American journal of human biology : the official journal of the Human Biology Council·2017

Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

Journal of community genetics·2015

A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action.

Journal of public health (Oxford, England)·2013

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

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Frontiers in medicine·2026

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

International urology and nephrology·2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

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Population screening for carrier of recessively inherited disorders

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A review of key terminology and definitions used for birth defects globally.

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide.

Mitochondrial DNA polymorphism in three Brazilian Indian tribes.

Biological variability in a migrating isolate, the Tokelau Islands: Child growth in different environments.

Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action.

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

The changing therapeutic landscape of small-cell lung cancer.

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

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Population screening for carrier of recessively inherited disorders

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