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Livia Garavelli

Showing results (91-100 of 156) with videos related to

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American Journal of Medical Genetics. Part A|November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental PhenotypeDebora Vergani, Lucia Tiberi, Annarita Giliberti, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
European Journal of Human Genetics : EJHG|October 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disordersKaren J Low, Julia Foreman, Rachel J Hobson, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experienceJacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Pageof 16

Showing results (91-100 of 156) with videos related to

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Pageof 16
American Journal of Medical Genetics. Part A|November 6, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental PhenotypeDebora Vergani, Lucia Tiberi, Annarita Giliberti, et al.
Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Journal of Inherited Metabolic Disease|June 18, 2022
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelinesDaniah Albokhari, Bobby G Ng, Alis Guberinic, et al.
European Journal of Human Genetics : EJHG|October 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disordersKaren J Low, Julia Foreman, Rachel J Hobson, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experienceJacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Pageof 16