Associated Papers
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.
AlHashem A et al.
American Journal of Medical Genetics. Part A, 2025
Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.
Pacifico P et al.
Human Molecular Genetics, 2023
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
32277576 (PubMed )
Supplement: JCMM-24-4931-s008.xlsx › Sheet1
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R et al.
American Journal of Medical Genetics. Part A, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Congenital insensitivity to pain with anhidrosis: a case report.
Emad MR et al.
Electromyography and Clinical Neurophysiology, 0
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