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Lorenzo Sinibaldi

Showing results (11-20 of 57) with videos related to

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Medicine|February 22, 2020
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature reviewDario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, et al.
Clinical Genetics|August 5, 2020
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disordersGiacomo Cinnirella, Rachel L Taylor, Claudio Coco, et al.
International Journal of Molecular Sciences|August 27, 2021
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in <i>OPN1LW/OPN1MW</i> and <i>GPR143</i> GenesGiancarlo Iarossi, Andrea Maria Coppè, Chiara Passarelli, et al.
Disease Markers|November 25, 2006
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutationsMonia Magliozzi, Maria Piane, Isabella Torrente, et al.
Human Mutation|November 9, 2004
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophreniaLorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, et al.
Genes, Brain, and Behavior|July 14, 2020
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new casesPaolo Alfieri, Francesco Scibelli, Lorenzo Sinibaldi, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|October 20, 2025
Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication SyndromeIlaria Venezia, Sara Passarini, Silvia Guerrera, et al.
Neuropediatrics|February 6, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous VariantsJacopo Sartorelli, Lorena Travaglini, Giacomo Garone, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.
Diagnostics (Basel, Switzerland)|September 23, 2022
A Novel Autosomal Recessive Variant of the <i>NRL</i> Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric PatientsGiancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, et al.
Pageof 6

Showing results (11-20 of 57) with videos related to

Sort By:
Pageof 6
Medicine|February 22, 2020
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature reviewDario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, et al.
Clinical Genetics|August 5, 2020
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disordersGiacomo Cinnirella, Rachel L Taylor, Claudio Coco, et al.
International Journal of Molecular Sciences|August 27, 2021
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in <i>OPN1LW/OPN1MW</i> and <i>GPR143</i> GenesGiancarlo Iarossi, Andrea Maria Coppè, Chiara Passarelli, et al.
Disease Markers|November 25, 2006
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutationsMonia Magliozzi, Maria Piane, Isabella Torrente, et al.
Human Mutation|November 9, 2004
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophreniaLorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, et al.
Genes, Brain, and Behavior|July 14, 2020
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new casesPaolo Alfieri, Francesco Scibelli, Lorenzo Sinibaldi, et al.
Journal of Developmental and Behavioral Pediatrics : JDBP|October 20, 2025
Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication SyndromeIlaria Venezia, Sara Passarini, Silvia Guerrera, et al.
Neuropediatrics|February 6, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous VariantsJacopo Sartorelli, Lorena Travaglini, Giacomo Garone, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.
Diagnostics (Basel, Switzerland)|September 23, 2022
A Novel Autosomal Recessive Variant of the <i>NRL</i> Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric PatientsGiancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, et al.
Pageof 6