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Francesca Cristofoli

Showing results (11-20 of 19) with videos related to

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Genes|December 24, 2021
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic SettingFrancesca Cristofoli, Elisa Sorrentino, Giulia Guerri, et al.
Gene|July 20, 2024
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNAChiara Mareso, Luca Crosta, Mattia Giovanna De Vita, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, et al.
International Journal of Molecular Sciences|December 9, 2023
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR<sup>ORF15</sup> Genetic VariantsGabriele Bonetti, William Cozza, Andrea Bernini, et al.
Brain & Development|September 25, 2014
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disabilityFrancesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, et al.
American Journal of Human Genetics|December 7, 2015
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze TypeMala Isrie, Martin Breuss, Guoling Tian, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Genes|December 24, 2021
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic SettingFrancesca Cristofoli, Elisa Sorrentino, Giulia Guerri, et al.
Gene|July 20, 2024
Assessing the efficacy of an innovative diagnostic method for identifying 5 % variants in somatic ctDNAChiara Mareso, Luca Crosta, Mattia Giovanna De Vita, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, et al.
International Journal of Molecular Sciences|December 9, 2023
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR<sup>ORF15</sup> Genetic VariantsGabriele Bonetti, William Cozza, Andrea Bernini, et al.
Brain & Development|September 25, 2014
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disabilityFrancesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, et al.
American Journal of Human Genetics|December 7, 2015
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze TypeMala Isrie, Martin Breuss, Guoling Tian, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Pageof 2