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Molecular Syndromology
|
January 20, 2023
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel
Sebastiano Aleo, Lidia Pezzani, Donatella Milani, et al.
European Journal of Medical Genetics
|
December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation
Claudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
September 14, 2007
Coeliac disease and Cornelia de Lange syndrome: lack of association
Francesco 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 test
Gianluca 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 delay
Donatella 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 synostosis
Angelo 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 Syndrome
Arianna Tucci, Luisa Ronzoni, Carlo Arduino, et al.
Italian Journal of Pediatrics
|
April 3, 2014
Syndromic obesity: clinical implications of a correct diagnosis
Donatella Milani, Marta Cerutti, Lidia Pezzani, et al.
Italian Journal of Pediatrics
|
April 20, 2017
Fragile X syndrome: a review of clinical and molecular diagnoses
Claudia Ciaccio, Laura Fontana, Donatella Milani, et al.
Page
of 14
Search research articles
Search
Showing results (11-20 of 140) with videos related to
Sort By:
Page
of 14
Molecular Syndromology
|
January 20, 2023
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel
Sebastiano Aleo, Lidia Pezzani, Donatella Milani, et al.
European Journal of Medical Genetics
|
December 24, 2016
16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation
Claudia Ciaccio, Arianna Tucci, Giulietta Scuvera, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
September 14, 2007
Coeliac disease and Cornelia de Lange syndrome: lack of association
Francesco 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 test
Gianluca 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 delay
Donatella 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 synostosis
Angelo 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 Syndrome
Arianna Tucci, Luisa Ronzoni, Carlo Arduino, et al.
Italian Journal of Pediatrics
|
April 3, 2014
Syndromic obesity: clinical implications of a correct diagnosis
Donatella Milani, Marta Cerutti, Lidia Pezzani, et al.
Italian Journal of Pediatrics
|
April 20, 2017
Fragile X syndrome: a review of clinical and molecular diagnoses
Claudia Ciaccio, Laura Fontana, Donatella Milani, et al.
Page
of 14