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American Journal of Medical Genetics. Part A|September 15, 2023
An atypical Aymé-Gripp phenotype detected by exome sequencingMartina Caiazza, Alberto Budillon, Emanuele Monda, et al.Genes|July 29, 2023
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis DefectPaolo Fontana, Alberto Budillon, Domenico Simeone, et al.Kidney & Blood Pressure Research|May 25, 2025
CFHR5 Nephropathy Case Report: A Novel Variant Characterized by Tubulointerstitial Kidney DiseaseRita Santarsiere, Giulia Florio, Annalisa Gonnella, et al.BMC Neurology|September 3, 2020
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case reportClaudia Santoro, Teresa Giugliano, Pia Bernardo, et al.Journal of Industrial Microbiology & Biotechnology|June 18, 2003
Active-site residue, domain and module swaps in modular polyketide synthasesFrancesca Del Vecchio, Hrvoje Petkovic, Steven G Kendrew, et al.Plos One|January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elementsMarco Savarese, Giulio Piluso, Daniela Orteschi, et al.American Journal of Medical Genetics. Part A|May 21, 2013
Familial trisomy 6p in mother and daughterMarco Savarese, Anna Grandone, Lucia Perone, et al.American Journal of Medical Genetics. Part A|March 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos SyndromePasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, et al.Kidney International Reports|February 24, 2025
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial EtiologyMiriam Zacchia, Floriana Secondulfo, Andrea Melluso, et al.Plos One|May 14, 2013
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FAnnalaura Torella, Marina Fanin, Margherita Mutarelli, et al.Pageof 4