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Donatella Milani

Showing results (11-20 of 140) with videos related to

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Molecular Syndromology|January 20, 2023
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery WheelSebastiano Aleo, Lidia Pezzani, Donatella Milani, et al.
European Journal of Medical Genetics|December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineationClaudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
Acta Paediatrica (Oslo, Norway : 1992)|September 14, 2007
Coeliac disease and Cornelia de Lange syndrome: lack of associationFrancesco Macchini, Angelo Selicorni, Sergio Luzzani, et al.
European Journal of Internal Medicine|May 3, 2014
Is it time to change the neurofibromatosis 1 diagnostic criteria?Gianluca Tadini, Donatella Milani, Francesca Menni, et al.
The Journal of Obstetrics and Gynaecology Research|December 15, 2018
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined testGianluca Tolva, Rosamaria Silipigni, Aida Quarenghi, et al.
Journal of Child Neurology|December 13, 2006
De novo duplication of chromosome 13(q32-q34) in a child with developmental delayDonatella Milani, Stefano D'Arrigo, Silvana Guerneri, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosisAngelo Selicorni, Alessandra Ferrarini, Giacomo Cagnoli, et al.
BMC Medical Genetics|March 13, 2016
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz SyndromeArianna Tucci, Luisa Ronzoni, Carlo Arduino, et al.
Italian Journal of Pediatrics|April 3, 2014
Syndromic obesity: clinical implications of a correct diagnosisDonatella Milani, Marta Cerutti, Lidia Pezzani, et al.
Italian Journal of Pediatrics|April 20, 2017
Fragile X syndrome: a review of clinical and molecular diagnosesClaudia Ciaccio, Laura Fontana, Donatella Milani, et al.
Pageof 14

Showing results (11-20 of 140) with videos related to

Sort By:
Pageof 14
Molecular Syndromology|January 20, 2023
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery WheelSebastiano Aleo, Lidia Pezzani, Donatella Milani, et al.
European Journal of Medical Genetics|December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineationClaudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
Acta Paediatrica (Oslo, Norway : 1992)|September 14, 2007
Coeliac disease and Cornelia de Lange syndrome: lack of associationFrancesco Macchini, Angelo Selicorni, Sergio Luzzani, et al.
European Journal of Internal Medicine|May 3, 2014
Is it time to change the neurofibromatosis 1 diagnostic criteria?Gianluca Tadini, Donatella Milani, Francesca Menni, et al.
The Journal of Obstetrics and Gynaecology Research|December 15, 2018
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined testGianluca Tolva, Rosamaria Silipigni, Aida Quarenghi, et al.
Journal of Child Neurology|December 13, 2006
De novo duplication of chromosome 13(q32-q34) in a child with developmental delayDonatella Milani, Stefano D'Arrigo, Silvana Guerneri, et al.
American Journal of Medical Genetics. Part A|December 4, 2004
Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosisAngelo Selicorni, Alessandra Ferrarini, Giacomo Cagnoli, et al.
BMC Medical Genetics|March 13, 2016
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz SyndromeArianna Tucci, Luisa Ronzoni, Carlo Arduino, et al.
Italian Journal of Pediatrics|April 3, 2014
Syndromic obesity: clinical implications of a correct diagnosisDonatella Milani, Marta Cerutti, Lidia Pezzani, et al.
Italian Journal of Pediatrics|April 20, 2017
Fragile X syndrome: a review of clinical and molecular diagnosesClaudia Ciaccio, Laura Fontana, Donatella Milani, et al.
Pageof 14