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Epigenetics
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April 24, 2014
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
Ilaria Parenti, Davide Rovina, Maura Masciadri, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2023
Rock around DYRK1A: Ethnic diversity, clinical challenges
Alice Moroni, Lidia Pezzani, Enrico Alfei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 5, 2016
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series
Alessandra Moretto, Vittorio Scaravilli, Valentina Ciceri, et al.
American Journal of Medical Genetics. Part A
|
December 22, 2023
Double somatic mosaicism in Cornelia de Lange syndrome
Lidia Pezzani, Laura Pezzoli, Erica Rosina, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 11, 2016
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients
Milena Mariani, Valentina Decimi, Laura Rachele Bettini, et al.
BMC Medical Genetics
|
April 5, 2013
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, et al.
Genes
|
July 27, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
Erica Rosina, Lidia Pezzani, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Cristina Gervasini, Silvia Russo, Anna Cereda, et al.
American Journal of Medical Genetics. Part A
|
May 22, 2020
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
Barbara Parma, Paola Cianci, Milena Mariani, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo, Maura Masciadri, Cristina Gervasini, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Epigenetics
|
April 24, 2014
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
Ilaria Parenti, Davide Rovina, Maura Masciadri, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2023
Rock around DYRK1A: Ethnic diversity, clinical challenges
Alice Moroni, Lidia Pezzani, Enrico Alfei, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 5, 2016
Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series
Alessandra Moretto, Vittorio Scaravilli, Valentina Ciceri, et al.
American Journal of Medical Genetics. Part A
|
December 22, 2023
Double somatic mosaicism in Cornelia de Lange syndrome
Lidia Pezzani, Laura Pezzoli, Erica Rosina, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 11, 2016
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients
Milena Mariani, Valentina Decimi, Laura Rachele Bettini, et al.
BMC Medical Genetics
|
April 5, 2013
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, et al.
Genes
|
July 27, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
Erica Rosina, Lidia Pezzani, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2013
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Cristina Gervasini, Silvia Russo, Anna Cereda, et al.
American Journal of Medical Genetics. Part A
|
May 22, 2020
Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?
Barbara Parma, Paola Cianci, Milena Mariani, et al.
European Journal of Human Genetics : EJHG
|
February 23, 2012
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
Silvia Russo, Maura Masciadri, Cristina Gervasini, et al.
Page
of 6