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Lidia Larizza

Showing results (131-140 of 150) with videos related to

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European Journal of Human Genetics : EJHG|July 10, 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromesElisabetta Di Fede, Valentina Massa, Bartolomeo Augello, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Genes|May 28, 2022
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the LiteratureMaria Paola Recalcati, Ilaria Catusi, Maria Garzo, et al.
Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
The Journal of Clinical Endocrinology and Metabolism|October 16, 2024
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R GeneAlessandro Vimercati, Pierpaola Tannorella, Sara Guzzetti, et al.
Clinical Epigenetics|March 3, 2016
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesSilvia Russo, Luciano Calzari, Alessandro Mussa, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
Pageof 15

Showing results (131-140 of 150) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|July 10, 2020
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromesElisabetta Di Fede, Valentina Massa, Bartolomeo Augello, et al.
American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.
Genes|May 28, 2022
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the LiteratureMaria Paola Recalcati, Ilaria Catusi, Maria Garzo, et al.
Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.
The Journal of Clinical Endocrinology and Metabolism|October 16, 2024
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R GeneAlessandro Vimercati, Pierpaola Tannorella, Sara Guzzetti, et al.
Clinical Epigenetics|March 3, 2016
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromesSilvia Russo, Luciano Calzari, Alessandro Mussa, et al.
European Journal of Human Genetics : EJHG|December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndromeJet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Cell Reports|July 21, 2012
Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanismsWigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, et al.
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
Pageof 15