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Donatella Milani

Showing results (81-90 of 140) with videos related to

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Journal of Human Genetics|February 27, 2018
Correction: The absence that makes the difference: choroidal abnormalities in Legius syndromeArianna Tucci, Veronica Saletti, Francesca Menni, et al.
Journal of Human Genetics|July 28, 2017
The absence that makes the difference: choroidal abnormalities in Legius syndromeArianna Tucci, Veronica Saletti, Francesca Menni, et al.
International Journal of Molecular Sciences|November 26, 2022
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 VariantsSara Perego, Valentina Alari, Gianluca Pietra, et al.
American Journal of Medical Genetics. Part A|April 18, 2018
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndromeLeda Paganini, Chiara Pesenti, Donatella Milani, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndromeAngelo Selicorni, Anna Maria Colli, Alice Passarini, et al.
Endocrine|January 23, 2023
Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature reviewDonatella Milani, Alessia Dolci, Ilaria Muller, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.
Human Genetics|May 16, 2024
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathiesElisabetta Di Fede, Antonella Lettieri, Esi Taci, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Pageof 14

Showing results (81-90 of 140) with videos related to

Sort By:
Pageof 14
Journal of Human Genetics|February 27, 2018
Correction: The absence that makes the difference: choroidal abnormalities in Legius syndromeArianna Tucci, Veronica Saletti, Francesca Menni, et al.
Journal of Human Genetics|July 28, 2017
The absence that makes the difference: choroidal abnormalities in Legius syndromeArianna Tucci, Veronica Saletti, Francesca Menni, et al.
International Journal of Molecular Sciences|November 26, 2022
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 VariantsSara Perego, Valentina Alari, Gianluca Pietra, et al.
American Journal of Medical Genetics. Part A|April 18, 2018
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndromeLeda Paganini, Chiara Pesenti, Donatella Milani, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndromeAngelo Selicorni, Anna Maria Colli, Alice Passarini, et al.
Endocrine|January 23, 2023
Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature reviewDonatella Milani, Alessia Dolci, Ilaria Muller, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.
Human Genetics|May 16, 2024
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathiesElisabetta Di Fede, Antonella Lettieri, Esi Taci, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Pageof 14