Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.
International Journal of Molecular Sciences|January 16, 2021
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset OsteoporosisViola Alesi, Maria Lisa Dentici, Silvia Genovese, et al.
Biomolecules|May 27, 2023
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated RearrangementsViola Alesi, Silvia Genovese, Francesca Romana Lepri, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profileViola Alesi, Sara Loddo, Valeria Orlando, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Human Mutation|May 16, 2013
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephalocelesBenjamin W Darbro, Vinit B Mahajan, Lokesh Gakhar, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 1, 2018
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplicationsKate Wolfe, Andrew McQuillin, Viola Alesi, et al.
American Journal of Medical Genetics. Part A|May 27, 2021
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort studyBradley Bowles, Alejandro Ferrer, Carla J Nishimura, et al.
European Journal of Human Genetics : EJHG|August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsJulia Volpi, Xiaonan Zhao, Nichole Owen, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Pageof 5