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Donatella Milani

Showing results (111-120 of 140) with videos related to

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Journal of Human Genetics|February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Journal of Human Genetics|November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 15, 2018
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disordersAmbra Rizzo, Enrico Alfei, Federica Zibordi, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathiesJennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.
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.
European Journal of Human Genetics : EJHG|April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromeAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Italian Journal of Pediatrics|October 22, 2025
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp associationSilvia Russo, Donatella Milani, Camilla Meossi, 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.
Clinical Genetics|July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniquesDiana Carli, Matteo Operti, Silvia Russo, et al.
Pageof 14

Showing results (111-120 of 140) with videos related to

Sort By:
Pageof 14
Journal of Human Genetics|February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
Journal of Human Genetics|November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 15, 2018
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disordersAmbra Rizzo, Enrico Alfei, Federica Zibordi, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathiesJennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, et al.
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.
European Journal of Human Genetics : EJHG|April 23, 2015
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndromeAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Italian Journal of Pediatrics|October 22, 2025
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp associationSilvia Russo, Donatella Milani, Camilla Meossi, 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.
Clinical Genetics|July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniquesDiana Carli, Matteo Operti, Silvia Russo, et al.
Pageof 14