Ten base pair duplication in exon 38 of the NF1 gene

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Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.

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Erratum: Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.

Scientific reports·2017

The relationship between migration and chondrogenic potential of trunk neural crest cells in Ambystoma mexicanum.

Roux's archives of developmental biology : the official organ of the EDBO·2017

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Clinical genetics·2016

Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.

Scientific reports·2016

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

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

Human molecular genetics·2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

Allele-specific expression modulates the immunological and cis-regulatory landscape of Parkinson's Disease.

Computers in biology and medicine·2026

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The British journal of dermatology·2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal of human genetics·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

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Molecular psychiatry·2026

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Ten base pair duplication in exon 38 of the NF1 gene

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Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

Unilateral Coats'-like disease and an intragenic deletion in the TERC gene: A case report.

Erratum: Capturing the wide variety of impaired fracture healing phenotypes in Neurofibromatosis Type 1 with eight key factors: a computational study.

The relationship between migration and chondrogenic potential of trunk neural crest cells in Ambystoma mexicanum.

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Ten base pair duplication in exon 38 of the NF1 gene

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