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Garavelli

Showing results (451-460 of 609) with videos related to

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Orphanet Journal of Rare Diseases|April 17, 2013
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Chiara Dordoni, Marina Venturini, et al.
American Journal of Medical Genetics. Part A|March 14, 2012
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionStefania Zampatti, Marco Castori, Bjoern Fischer, et al.
Journal of Human Genetics|October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinomaIvan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.
Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology|February 1, 2018
The effect of solvent relaxation in the ultrafast time-resolved spectroscopy of solvated benzophenoneElena Zvereva, Javier Segarra-Martí, Marco Marazzi, et al.
Fetal and Pediatric Pathology|March 4, 2026
Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy FindingsMaria Paola Bonasoni, Giuseppina Comitini, Andrea Musarò, et al.
Physical Chemistry Chemical Physics : PCCP|September 12, 2022
Coherent vibrational modes promote the ultrafast internal conversion and intersystem crossing in thiobasesDanielle Cristina Teles-Ferreira, Ivo Hm van Stokkum, Irene Conti, et al.
International Journal of Molecular Sciences|September 30, 2017
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type IFrancesco Bonatti, Alessia Adorni, Annalisa Matichecchia, et al.
Cerebellum (London, England)|October 13, 2023
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
Genes, Chromosomes & Cancer|June 9, 2015
PI3K/AKT signaling inhibits NOTCH1 lysosome-mediated degradationNatalia Platonova, Teresa Manzo, Leonardo Mirandola, et al.
Pageof 61

Showing results (451-460 of 609) with videos related to

Sort By:
Pageof 61
Orphanet Journal of Rare Diseases|April 17, 2013
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsMarco Ritelli, Chiara Dordoni, Marina Venturini, et al.
American Journal of Medical Genetics. Part A|March 14, 2012
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunctionStefania Zampatti, Marco Castori, Bjoern Fischer, et al.
Journal of Human Genetics|October 29, 2019
Alazami syndrome: the first case of papillary thyroid carcinomaIvan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, et al.
Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology|February 1, 2018
The effect of solvent relaxation in the ultrafast time-resolved spectroscopy of solvated benzophenoneElena Zvereva, Javier Segarra-Martí, Marco Marazzi, et al.
Fetal and Pediatric Pathology|March 4, 2026
Bladder Exstrophy in a Female Fetus: Ultrasound and Autopsy FindingsMaria Paola Bonasoni, Giuseppina Comitini, Andrea Musarò, et al.
Physical Chemistry Chemical Physics : PCCP|September 12, 2022
Coherent vibrational modes promote the ultrafast internal conversion and intersystem crossing in thiobasesDanielle Cristina Teles-Ferreira, Ivo Hm van Stokkum, Irene Conti, et al.
International Journal of Molecular Sciences|September 30, 2017
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type IFrancesco Bonatti, Alessia Adorni, Annalisa Matichecchia, et al.
Cerebellum (London, England)|October 13, 2023
Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1Carlo Alberto Cesaroni, Giulia Pisanò, Gabriele Trimarchi, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
Genes, Chromosomes & Cancer|June 9, 2015
PI3K/AKT signaling inhibits NOTCH1 lysosome-mediated degradationNatalia Platonova, Teresa Manzo, Leonardo Mirandola, et al.
Pageof 61