Trisomy 9 mosaicism with multiple congenital anomalies

Inefficient transfer of diatoms through the subpolar Southern Ocean twilight zone.

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Advanced waveform analysis of diaphragm surface EMG allows for continuous non-invasive assessment of respiratory effort in critically ill patients at different PEEP levels.

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Revealing uncertainty in the status of biodiversity change.

Nature·2024

Analysis and applications of respiratory surface EMG: report of a round table meeting.

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Plant size, latitude, and phylogeny explain within-population variability in herbivory.

Science (New York, N.Y.)·2023

Transcriptional responses of Trichodesmium to natural inverse gradients of Fe and P availability.

The ISME journal·2021

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Journal of medical genetics·2026

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.

JCEM case reports·2026

Sexual Dimorphism of ZEB1 Expression and Function in Glioblastoma.

Cells·2026

Positional cues, not Notch, direct neuroblast selection during early neurogenesis in the Drosophila embryo.

Current biology : CB·2026

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

Science China. Life sciences·2026

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Hormone molecular biology and clinical investigation·2026

Beyond serum testosterone: Sexual experience delays the decline of sexual behavior and preserves cellular density in the medial preoptic area of gonadectomized male rats.

Behavioural processes·2026

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Trisomy 9 mosaicism with multiple congenital anomalies

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Inefficient transfer of diatoms through the subpolar Southern Ocean twilight zone.

Advanced waveform analysis of diaphragm surface EMG allows for continuous non-invasive assessment of respiratory effort in critically ill patients at different PEEP levels.

Revealing uncertainty in the status of biodiversity change.

Analysis and applications of respiratory surface EMG: report of a round table meeting.

Plant size, latitude, and phylogeny explain within-population variability in herbivory.

Transcriptional responses of Trichodesmium to natural inverse gradients of Fe and P availability.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.

Sexual Dimorphism of ZEB1 Expression and Function in Glioblastoma.

Positional cues, not Notch, direct neuroblast selection during early neurogenesis in the Drosophila embryo.

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.

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Trisomy 9 mosaicism with multiple congenital anomalies

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