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Lorenzo Sinibaldi

Showing results (51-60 of 57) with videos related to

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Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
Clinical Genetics|May 16, 2019
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesLorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, et al.
Epigenetics|February 19, 2016
BDNF rs6265 methylation and genotype interact on risk for schizophreniaGianluca Ursini, Tommaso Cavalleri, Leonardo Fazio, et al.
Frontiers in Genetics|December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN <i>in-silico</i> structural analysisDavide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Pageof 6

Showing results (51-60 of 57) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 57 results.
Clinical Genetics|July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awarenessLorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
Clinical Genetics|May 16, 2019
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesLorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, et al.
Epigenetics|February 19, 2016
BDNF rs6265 methylation and genotype interact on risk for schizophreniaGianluca Ursini, Tommaso Cavalleri, Leonardo Fazio, et al.
Frontiers in Genetics|December 26, 2024
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN <i>in-silico</i> structural analysisDavide Vecchio, Marina Macchiaiolo, Michaela V Gonfiantini, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Pageof 6