Instability versus predictability: the molecular diagnosis of myotonic dystrophy

Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

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Bilateral vestibular schwannomas in older patients: NF2 or chance?

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Syncoilin is an intermediate filament protein in activated hepatic stellate cells.

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Journal of musculoskeletal & neuronal interactions·2013

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Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.

American journal of medical genetics. Part A·2010

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

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.

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CYTOKINE DYNAMICS AND MRI-BASED CARTILAGE CHANGES OVER 5 YEARS AFTER ACL INJURY.

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Restoring carpal alignment: Long-term outcomes of modified Fisk-Fernandez technique in scaphoid nonunion.

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Rapid, Robust, and Reversible Photomechanical Bending in a Flexible Zinc(II) Complex Crystal with 2D Elasticity for Controlled Motion.

Small (Weinheim an der Bergstrasse, Germany)·2026

Nail-Schanz pin integrated external distraction technique during intramedullary nailing of comminuted femoral shaft fracture.

Trauma case reports·2026

Spontaneous oscillatory contraction (SPOC) in striated muscle: focusing on mechanistic models.

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bioRxiv : the preprint server for biology·2026

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Instability versus predictability: the molecular diagnosis of myotonic dystrophy

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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Syncoilin is an intermediate filament protein in activated hepatic stellate cells.

Vitamin D status and muscle function in children with neurofibromatosis type 1 (NF1).

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome.

Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

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.

CYTOKINE DYNAMICS AND MRI-BASED CARTILAGE CHANGES OVER 5 YEARS AFTER ACL INJURY.

Restoring carpal alignment: Long-term outcomes of modified Fisk-Fernandez technique in scaphoid nonunion.

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Instability versus predictability: the molecular diagnosis of myotonic dystrophy

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