Results 81 to 90 of about 1,786 (148)

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants. [PDF]

open access: yesJ Med Genet
Pacot L   +60 more
europepmc   +1 more source

Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia. [PDF]

open access: yesDiagnostics (Basel), 2023
de Rivas MO   +8 more
europepmc   +1 more source

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene [PDF]

open access: yes, 2017
Delozier-Blanchet, Célla D.   +3 more
core  

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study. [PDF]

open access: yesJAAD Int
Wang Z   +9 more
europepmc   +1 more source

Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1. [PDF]

open access: yesNeurol Genet
Tanase MG   +11 more
europepmc   +1 more source

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