61 research outputs found
Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)
Full text linkPlant species diversity for sustainable management of crop pests and diseases in agroecosystems: a review
Full text link
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
No full textExpanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Get PDFDuplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic
No full textAlternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients
No full textConstitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1
No full textNeurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
No full text- …
