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Donatella Milani

Showing results (31-40 of 140) with videos related to

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Journal of Pediatric and Adolescent Gynecology|May 7, 2018
Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the LiteratureMarta Gatti, Gianluca Tolva, Silvia Bergamaschi, et al.
European Journal of Medical Genetics|November 21, 2016
7p22.1 microduplication syndrome: Refinement of the critical regionLuisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, et al.
Italian Journal of Pediatrics|October 1, 2022
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case reportElena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, et al.
Pediatric Nephrology (Berlin, Germany)|November 15, 2002
Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndromeCinzia Sforzini, Donatella Milani, Emilio Fossali, et al.
Genes|June 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <i>CREBBP</i> GeneGiulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, et al.
Frontiers in Neurology|December 13, 2018
Recurrence and Familial Inheritance of Intronic <i>NIPBL</i> Pathogenic Variant Associated With Mild CdLSMaura Masciadri, Anna Ficcadenti, Donatella Milani, et al.
Italian Journal of Pediatrics|January 21, 2015
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementDonatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, et al.
European Journal of Medical Genetics|July 13, 2010
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomaliesRossella Caselli, Lucia Ballarati, Angelo Selicorni, et al.
Genes|December 23, 2022
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos SyndromePaola Castronovo, Sebastiano Aleo, Agostino Seresini, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.
Pageof 14

Showing results (31-40 of 140) with videos related to

Sort By:
Pageof 14
Journal of Pediatric and Adolescent Gynecology|May 7, 2018
Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the LiteratureMarta Gatti, Gianluca Tolva, Silvia Bergamaschi, et al.
European Journal of Medical Genetics|November 21, 2016
7p22.1 microduplication syndrome: Refinement of the critical regionLuisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, et al.
Italian Journal of Pediatrics|October 1, 2022
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case reportElena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, et al.
Pediatric Nephrology (Berlin, Germany)|November 15, 2002
Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndromeCinzia Sforzini, Donatella Milani, Emilio Fossali, et al.
Genes|June 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the <i>CREBBP</i> GeneGiulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, et al.
Frontiers in Neurology|December 13, 2018
Recurrence and Familial Inheritance of Intronic <i>NIPBL</i> Pathogenic Variant Associated With Mild CdLSMaura Masciadri, Anna Ficcadenti, Donatella Milani, et al.
Italian Journal of Pediatrics|January 21, 2015
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementDonatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, et al.
European Journal of Medical Genetics|July 13, 2010
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomaliesRossella Caselli, Lucia Ballarati, Angelo Selicorni, et al.
Genes|December 23, 2022
Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos SyndromePaola Castronovo, Sebastiano Aleo, Agostino Seresini, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.
Pageof 14