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Livia Garavelli

Showing results (111-120 of 156) with videos related to

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Human Genetics|December 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genesAldesia Provenzano, Andrea La Barbera, Mirko Scagnet, et al.
European Journal of Human Genetics : EJHG|February 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndromeStefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
American Journal of Medical Genetics. Part A|June 23, 2015
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014Tara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalusAnnemieke J M H Verkerk, Rachel Schot, Laura van Waterschoot, 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.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Journal of Intellectual Disability Research : JIDR|October 20, 2025
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA GuidelineMirthe J Klein Haneveld, Katarzyna Świeczkowska, Tomasz Grybek, et al.
Pageof 16

Showing results (111-120 of 156) with videos related to

Sort By:
Pageof 16
Human Genetics|December 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genesAldesia Provenzano, Andrea La Barbera, Mirko Scagnet, et al.
European Journal of Human Genetics : EJHG|February 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndromeStefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, et al.
American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
American Journal of Medical Genetics. Part A|June 23, 2015
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014Tara L Wenger, Margaret Harr, Stefania Ricciardi, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalusAnnemieke J M H Verkerk, Rachel Schot, Laura van Waterschoot, 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.
Human Mutation|December 30, 2014
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutationsAnna Caciotti, Rodolfo Tonin, Miriam Rigoldi, et al.
Journal of Intellectual Disability Research : JIDR|October 20, 2025
Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA GuidelineMirthe J Klein Haneveld, Katarzyna Świeczkowska, Tomasz Grybek, et al.
Pageof 16