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Donatella Milani

Showing results (101-110 of 140) with videos related to

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Genes|November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number VariationsCamilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
BMC Medical Genetics|October 21, 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna, Donatella Milani, Cristina Gervasini, et al.
Genes & Genomics|December 1, 2022
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiologyGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Clinical Genetics|November 2, 2025
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level CenterGiulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 13, 2021
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic BrachydactylyFrancesca Marta Elli, Deborah Mattinzoli, Camilla Lucca, et al.
American Journal of Medical Genetics. Part A|February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndromeSara Griffiths, Chey Loveday, Anna Zachariou, et al.
European Journal of Medical Genetics|November 24, 2015
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndromeAlessandro Mussa, Stefania Di Candia, Silvia Russo, et al.
Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.
American Journal of Medical Genetics. Part A|July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island populationMarianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Journal of Clinical Immunology|June 29, 2020
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome PatientsFrancesco Saettini, Richard Herriot, Elisabetta Prada, et al.
Pageof 14

Showing results (101-110 of 140) with videos related to

Sort By:
Pageof 14
Genes|November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number VariationsCamilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
BMC Medical Genetics|October 21, 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna, Donatella Milani, Cristina Gervasini, et al.
Genes & Genomics|December 1, 2022
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiologyGiada Moresco, Ornella Rondinone, Alessia Mauri, et al.
Clinical Genetics|November 2, 2025
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level CenterGiulia Bruna Marchetti, Erica Rosina, Camilla Meossi, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 13, 2021
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic BrachydactylyFrancesca Marta Elli, Deborah Mattinzoli, Camilla Lucca, et al.
American Journal of Medical Genetics. Part A|February 23, 2019
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndromeSara Griffiths, Chey Loveday, Anna Zachariou, et al.
European Journal of Medical Genetics|November 24, 2015
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndromeAlessandro Mussa, Stefania Di Candia, Silvia Russo, et al.
Molecular Genetics & Genomic Medicine|December 2, 2023
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective studyErica Rosina, Lidia Pezzani, Erika Apuril, et al.
American Journal of Medical Genetics. Part A|July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island populationMarianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Journal of Clinical Immunology|June 29, 2020
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome PatientsFrancesco Saettini, Richard Herriot, Elisabetta Prada, et al.
Pageof 14