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Journal of Pediatric Genetics
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September 13, 2016
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Silvia Spena, Cristina Gervasini, Donatella Milani
Journal of Pediatric Genetics
|
September 13, 2016
Intellectual Disability: When the Hypertrichosis Is a Clue
Lidia Pezzani, Donatella Milani, Gianluca Tadini
Neurogenetics
|
May 5, 2023
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
Viviana Tritto, Federico Grilli, Donatella Milani, et al.
The Application of Clinical Genetics
|
September 27, 2014
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
Donatella Milani, Lidia Pezzani, Silvia Tabano, et al.
Human Vaccines & Immunotherapeutics
|
September 5, 2015
Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines
Susanna Esposito, Marta Cerutti, Donatella Milani, et al.
Current Treatment Options in Neurology
|
April 29, 2015
Treatment of neurofibromatosis type 1
Caterina Sabatini, Donatella Milani, Francesca Menni, et al.
Italian Journal of Pediatrics
|
July 15, 2015
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome
Donatella Milani, Francesca Bonarrigo, Sabrina Avignone, et al.
Pediatric Neurology
|
May 4, 2005
Another patient with MECP2 mutation without classic Rett syndrome phenotype
Donatella Milani, Chiara Pantaleoni, Stefano D'Arrigo, et al.
Molecular Cytogenetics
|
November 9, 2016
<i>MIR137</i> is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2016
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
Luisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, et al.
Page
of 14
Search research articles
Search
Showing results (1-10 of 140) with videos related to
Sort By:
Page
of 14
Journal of Pediatric Genetics
|
September 13, 2016
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Silvia Spena, Cristina Gervasini, Donatella Milani
Journal of Pediatric Genetics
|
September 13, 2016
Intellectual Disability: When the Hypertrichosis Is a Clue
Lidia Pezzani, Donatella Milani, Gianluca Tadini
Neurogenetics
|
May 5, 2023
Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
Viviana Tritto, Federico Grilli, Donatella Milani, et al.
The Application of Clinical Genetics
|
September 27, 2014
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
Donatella Milani, Lidia Pezzani, Silvia Tabano, et al.
Human Vaccines & Immunotherapeutics
|
September 5, 2015
Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines
Susanna Esposito, Marta Cerutti, Donatella Milani, et al.
Current Treatment Options in Neurology
|
April 29, 2015
Treatment of neurofibromatosis type 1
Caterina Sabatini, Donatella Milani, Francesca Menni, et al.
Italian Journal of Pediatrics
|
July 15, 2015
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome
Donatella Milani, Francesca Bonarrigo, Sabrina Avignone, et al.
Pediatric Neurology
|
May 4, 2005
Another patient with MECP2 mutation without classic Rett syndrome phenotype
Donatella Milani, Chiara Pantaleoni, Stefano D'Arrigo, et al.
Molecular Cytogenetics
|
November 9, 2016
<i>MIR137</i> is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions
Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, et al.
American Journal of Medical Genetics. Part A
|
January 13, 2016
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
Luisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, et al.
Page
of 14