Results 181 to 190 of about 24,558 (240)

Radiation sensitivity in genetic tumour syndromes and how to test for them. [PDF]

Med Genet
Distel LV, Hildebrand LS, Kuhlmann LCF, Vogel RKG.   +3 more
europepmc   +1 more source

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on <i>PTPN11</i> c.922A>G Variant and Phenotypic Spectrum. [PDF]

Diagnostics (Basel)
Nazarie FV, Miclea D, Șufană C, Botezatu A, Popp RA, Pascanu IM, Alkhzouz C, Bucerzan S, Lazăr C, Lazea C, Vulturar R.   +10 more
europepmc   +1 more source

Pharmacogenomic Synthetic Lethal Screens Reveal Hidden Vulnerabilities and New Therapeutic Approaches for Treatment of NF1-Associated Tumors. [PDF]

Mol Cancer Ther
Williams KB, Larsson AT, Keller BJ, Chaney KE, Williams RL, Bhunia MM, Draper GM, Jubenville TA, Hudson WA, Georg GI, Moertel CL, Ratner N, Largaespada DA.   +12 more
europepmc   +1 more source

Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis. [PDF]

Life (Basel)
Zedde M, Pascarella R.
europepmc   +1 more source

Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene. [PDF]

Int J Dev Neurosci
Su S, Bai Y, Lu Y, Ren Y, Zhang W, Wang G, Ma K, Zhang H.   +7 more
europepmc   +1 more source

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics. [PDF]

Int J Mol Sci
Treccarichi S, Vinci M, Virgillito M, Musumeci A, Bruno F, Papa C, Galati Rando R, Marano P, Greco D, Fallea A, Brancato D, Calì S, Garcia G, Federico C, Saccone S, Calì F.   +15 more
europepmc   +1 more source

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview. [PDF]

Eur J Neurol
Palermo M, Sturiale CL.
europepmc   +1 more source

Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension. [PDF]

Curr Hypertens Rep
Singh E, Meyers K, Coleman DM, Ganesh SK.   +3 more
europepmc   +1 more source

Presentation and Outcomes of CNS Tumors Associated With Phakomatoses Syndromes From a Specialized Neuro-Oncology Practice in India. [PDF]

Cancer Med
Krishnan A, Baviskar Y, Chatterjee A, Dasgupta A, Epari S, Sahu A, Chinnaswamy G, Menon N, Moiyadi A, Gupta T, Sastri-Goda J.   +10 more
europepmc   +1 more source