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European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.

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Is ultra wide-field retinal imaging alone appropriate for retinal angioma screening in lower risk subjects attending Von Hippel-Lindau (VHL) clinics?

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The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.

QJM : monthly journal of the Association of Physicians·2018

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

Clinical and experimental dermatology·2018

Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition.

Oncogene·2016

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex.

Journal of neurology·2016

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Human molecular genetics·2026

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Human molecular genetics·2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice.

Endocrinology, diabetes & metabolism·2026

Prenatal stress selectively enhances locomotor hyperactivity in male mice with embryonic loss of Fgfr2.

Frontiers in psychiatry·2026

Single-cell RNA sequencing in diabetic foot ulcers: pathogenesis, biomarkers, and translational potential.

Frontiers in clinical diabetes and healthcare·2026

KAT5: the epigenetic regulator of central nervous system diseases.

Frontiers in molecular neuroscience·2026

Genetic Regulation of DNA Methylation and Its Mediating Role in Blood Pressure: A Genome-Wide Twin Study.

MedComm·2026

Increased Risk of Gout among Patients with Trisomy 21: Insights from a Population-Based Study of over 30,000 Patients with Trisomy 21.

Mediterranean journal of rheumatology·2026

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Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish

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European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.

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