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International Journal of Molecular Sciences|May 27, 2026
Bioactive-Supplemented Infant Formulas and Early Gut-Immune-Endocrine Development: A Narrative ReviewSalvatore Scirè Calabrisotto, Roberta Leonardi, Marco Guercio, et al.
Therapeutic Advances in Rare Disease|April 28, 2025
Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic cluesLaura Battaglia, Corrado Ini', Manuela Lo Bianco, et al.
Molecular Diagnosis & Therapy|April 6, 2024
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K VariantRaffaele Falsaperla, Vincenzo Sortino, Simona Domenica Marino, et al.
Clinical and Experimental Pediatrics|June 15, 2023
Need for palliative care from birth to infancy in pediatric patients with neurological diseasesRaffaele Falsaperla, Silvia Marino, Carla Moscheo, et al.
European Journal of Pediatrics|October 8, 2014
Zellweger syndrome and secondary mitochondrial myopathyVincenzo Salpietro, Rahul Phadke, Anand Saggar, et al.
Pediatric Neurology|November 25, 2010
Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 childrenAlberto Spalice, Martino Ruggieri, Salvatore Grosso, et al.
Biomedicines|July 29, 2023
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation SequencingElisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, et al.
Molecular and Cellular Pediatrics|April 2, 2025
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?Raffaele Falsaperla, Annamaria Sapuppo, Xena Giada Pappalardo, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|October 30, 2008
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and strokeMassimo Barbagallo, Piero Pavone, Gemma Incorpora, et al.
Molecular Biology Reports|June 17, 2022
Multiple primary malignances managed with surgical excision: a case report with next generation sequencing analysisChiara Romano, Sandra Di Gregorio, Maria Stella Pennisi, et al.
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