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Donatella Milani

Showing results (41-50 of 140) with videos related to

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Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
Journal of Child Neurology|September 26, 2013
Think about it: FMR1 gene mosaicismFrancesca Andrea Bonarrigo, Silvia Russo, Paola Vizziello, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Neurological phenotype of Potocki-Lupski syndromeClaudia Ciaccio, Chiara Pantaleoni, Donatella Milani, et al.
Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.
Genes|January 25, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be RevealedElisabetta Prada, Giulia Bruna Marchetti, Denise Pires Marafon, et al.
Human Genetics|August 5, 2017
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowthLuca Ferrari, Giulietta Scuvera, Arianna Tucci, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndromeGiovanna Olioso, Alice Passarini, Francesca Atzeri, et al.
International Journal of Pediatric Otorhinolaryngology|April 30, 2014
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Sonia Bianchini, et al.
Clinical Genetics|November 22, 2023
CATSHL syndrome, a new family and phenotypic expansionSilvia Cannova, Camilla Meossi, Federico Grilli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 8, 2014
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary resultsPaola Francesca Ajmone, Claudia Rigamonti, Francesca Dall'Ara, et al.
Pageof 14

Showing results (41-50 of 140) with videos related to

Sort By:
Pageof 14
Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
Journal of Child Neurology|September 26, 2013
Think about it: FMR1 gene mosaicismFrancesca Andrea Bonarrigo, Silvia Russo, Paola Vizziello, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
Neurological phenotype of Potocki-Lupski syndromeClaudia Ciaccio, Chiara Pantaleoni, Donatella Milani, et al.
Nature Genetics|April 11, 2006
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio, Angelo Selicorni, Maria Luisa Focarelli, et al.
Genes|January 25, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be RevealedElisabetta Prada, Giulia Bruna Marchetti, Denise Pires Marafon, et al.
Human Genetics|August 5, 2017
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowthLuca Ferrari, Giulietta Scuvera, Arianna Tucci, et al.
American Journal of Medical Genetics. Part A|October 31, 2009
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndromeGiovanna Olioso, Alice Passarini, Francesca Atzeri, et al.
International Journal of Pediatric Otorhinolaryngology|April 30, 2014
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Sonia Bianchini, et al.
Clinical Genetics|November 22, 2023
CATSHL syndrome, a new family and phenotypic expansionSilvia Cannova, Camilla Meossi, Federico Grilli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 8, 2014
Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary resultsPaola Francesca Ajmone, Claudia Rigamonti, Francesca Dall'Ara, et al.
Pageof 14