Marco Tartaglia Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Biography Publications Institution JoVE Articles Marco Tartaglia has not added a biography. If you are Marco Tartaglia and would like to personalize this page please email our Author Liaison for assistance. Publications Co-occurring WARS2 and CHRNA6 Mutations in a Child with a Severe Form of Infantile Parkinsonism Parkinsonism & Related Disorders. 03, 2020 | Pubmed ID: 32120303 Frameshift Mutations at the C-terminus of HIST1H1E Result in a Specific DNA Hypomethylation Signature Clinical Epigenetics. Jan, 2020 | Pubmed ID: 31910894 A Novel Disorder Involving Dyshematopoiesis, Inflammation, and HLH Due to Aberrant CDC42 Function The Journal of Experimental Medicine. 12, 2019 | Pubmed ID: 31601675 Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease Genes. 09, 2019 | Pubmed ID: 31487937 Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging American Journal of Human Genetics. 09, 2019 | Pubmed ID: 31447100 Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome American Journal of Human Genetics. 06, 2019 | Pubmed ID: 31130282 Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome American Journal of Human Genetics. 10, 2018 | Pubmed ID: 30290154 Biallelic Mutations in Early-onset, Variably Progressive Neurodegeneration Neurology. 07, 2018 | Pubmed ID: 29959261 Whole Exome Sequencing in an Italian Family with Isolated Maxillary Canine Agenesis and Canine Eruption Anomalies Archives of Oral Biology. Jul, 2018 | Pubmed ID: 29705498 Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes American Journal of Human Genetics. 02, 2018 | Pubmed ID: 29394990 Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy American Journal of Human Genetics. Oct, 2016 | Pubmed ID: 27666370 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy American Journal of Human Genetics. Oct, 2016 | Pubmed ID: 27666369 SHOC2 Subcellular Shuttling Requires the KEKE Motif-rich Region and N-terminal Leucine-rich Repeat Domain and Impacts on ERK Signalling Human Molecular Genetics. 09, 2016 | Pubmed ID: 27466182 Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy American Journal of Human Genetics. Apr, 2016 | Pubmed ID: 27040692 एक स्वचालित इमेजिंग सिस्टम का उपयोग करके आईपीएससी के संगम को मापना। Valentina Magliocca1,2, Maria Vinci3, Tiziana Persichini2, Franco Locatelli3, Marco Tartaglia1, Claudia Compagnucci1 1Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 2Department of Science, University Roma Tre, 3Department of Onco-hematology, Gene and Cell Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS JoVE 61225 Biología
एक स्वचालित इमेजिंग सिस्टम का उपयोग करके आईपीएससी के संगम को मापना। Valentina Magliocca1,2, Maria Vinci3, Tiziana Persichini2, Franco Locatelli3, Marco Tartaglia1, Claudia Compagnucci1 1Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 2Department of Science, University Roma Tre, 3Department of Onco-hematology, Gene and Cell Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS JoVE 61225 Biología
