The genetics of metabolic disorders

Regulation of clustered gene expression by cofactor of BRCA1 (COBRA1) in breast cancer cells.

Oncogene·2006

The canine homeobox gene MSX2: sequence, chromosome assignment and genetic analysis in dogs of different breeds.

Animal genetics·2001

Identification and characterisation of polymorphisms in human phosphoglucomutase (PGM1).

Annals of human genetics·2000

Mapping recombination hotspots in human phosphoglucomutase (PGM1).

Human molecular genetics·1999

A phylogenetic approach to the identification of phosphoglucomutase genes.

Molecular biology and evolution·1998

Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line.

Annals of human genetics·1997

Understanding chronic itch: a mechanistic framework for primary care.

Postgraduate medical journal·2026

From mechanization to cognitive autonomy: the journey of healthcare evolution from Industry 1.0 to 6.0.

Postgraduate medical journal·2026

Association between pulse wave velocity and extracoronary arterial calcification: a systematic review and meta-analysis.

Postgraduate medical journal·2026

Factors associated with attitudes towards artificial intelligence among medical students: roles of digital literacy, emotional intelligence, and AI-related perceptions.

Postgraduate medical journal·2026

Learner handover in surgical and procedural training: continuity of coaching or reputational contamination? A narrative review.

Postgraduate medical journal·2026

Training medical students as peer simulated patients in undergraduate medical education: a narrative review and implementation framework.

Postgraduate medical journal·2026

Weight and HbA1c trajectories following initiation of continuous glucose monitoring in adults with type 1 diabetes: a cohort study using group-based multi-trajectory analysis.

The Lancet regional health. Europe·2026

Age-stratified interictal epileptiform discharges in SCN1A-related epilepsy: Association with early sodium channel-blocking antiseizure medication exposure.

Seizure·2026

Generation of induced pluripotent stem cell lines from a patient withKCNQ2-developmental and epileptic encephalopathy pathogenic variant c.783A > C; p.Phe261Leu, and a sibling control.

Stem cell research·2026

Nuclear speckle-associated perispeckle networks partition active chromatin into gene expression niches.

Cell reports·2026

The pharmacogenetic of cyclosporine in Tunisian renal transplantation.

Pharmacogenomics·2026

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

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

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The genetics of metabolic disorders

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Regulation of clustered gene expression by cofactor of BRCA1 (COBRA1) in breast cancer cells.

The canine homeobox gene MSX2: sequence, chromosome assignment and genetic analysis in dogs of different breeds.

Identification and characterisation of polymorphisms in human phosphoglucomutase (PGM1).

Mapping recombination hotspots in human phosphoglucomutase (PGM1).

A phylogenetic approach to the identification of phosphoglucomutase genes.

Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line.

Understanding chronic itch: a mechanistic framework for primary care.

From mechanization to cognitive autonomy: the journey of healthcare evolution from Industry 1.0 to 6.0.

Association between pulse wave velocity and extracoronary arterial calcification: a systematic review and meta-analysis.

Factors associated with attitudes towards artificial intelligence among medical students: roles of digital literacy, emotional intelligence, and AI-related perceptions.

Learner handover in surgical and procedural training: continuity of coaching or reputational contamination? A narrative review.

Training medical students as peer simulated patients in undergraduate medical education: a narrative review and implementation framework.

Weight and HbA1c trajectories following initiation of continuous glucose monitoring in adults with type 1 diabetes: a cohort study using group-based multi-trajectory analysis.

Age-stratified interictal epileptiform discharges in SCN1A-related epilepsy: Association with early sodium channel-blocking antiseizure medication exposure.

Generation of induced pluripotent stem cell lines from a patient withKCNQ2-developmental and epileptic encephalopathy pathogenic variant c.783A > C; p.Phe261Leu, and a sibling control.

Nuclear speckle-associated perispeckle networks partition active chromatin into gene expression niches.

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