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European Journal of Ophthalmology
|
March 21, 2015
Unique genomic profile associated with pediatric uveal melanoma
Maria Antonietta Blasi, Daniela Orteschi, Monica M Pagliara, et al.
Journal of Clinical Medicine
|
June 28, 2023
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue
Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, et al.
Epilepsia
|
June 3, 2009
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case
Chiara Veredice, Flaviana Bianco, Ilaria Contaldo, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2009
The ring 14 syndrome: clinical and molecular definition
Marcella Zollino, Laura Seminara, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2009
Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures
Cinzia Galasso, Adriana Lo-Castro, Nadia El-Malhany, et al.
Nature Genetics
|
May 1, 2012
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Marcella Zollino, Daniela Orteschi, Marina Murdolo, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions
Roberta Onesimo, Daniela Orteschi, Maria Scalzone, et al.
Acta Dermato-Venereologica
|
November 12, 2019
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
Giuseppe Marangi, Simone Garcovich, Gabriele Di Sante, et al.
Stem Cell Research
|
July 24, 2021
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome
Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, et al.
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Search research articles
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Showing results (11-20 of 48) with videos related to
Sort By:
Page
of 5
European Journal of Ophthalmology
|
March 21, 2015
Unique genomic profile associated with pediatric uveal melanoma
Maria Antonietta Blasi, Daniela Orteschi, Monica M Pagliara, et al.
Journal of Clinical Medicine
|
June 28, 2023
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue
Silvia D'Ippolito, Giuliana Longo, Daniela Orteschi, et al.
Epilepsia
|
June 3, 2009
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case
Chiara Veredice, Flaviana Bianco, Ilaria Contaldo, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2009
The ring 14 syndrome: clinical and molecular definition
Marcella Zollino, Laura Seminara, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A
|
December 17, 2009
Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures
Cinzia Galasso, Adriana Lo-Castro, Nadia El-Malhany, et al.
Nature Genetics
|
May 1, 2012
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
Marcella Zollino, Daniela Orteschi, Marina Murdolo, et al.
American Journal of Medical Genetics. Part A
|
July 24, 2012
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions
Roberta Onesimo, Daniela Orteschi, Maria Scalzone, et al.
Acta Dermato-Venereologica
|
November 12, 2019
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
Giuseppe Marangi, Simone Garcovich, Gabriele Di Sante, et al.
Stem Cell Research
|
July 24, 2021
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, et al.
American Journal of Medical Genetics. Part A
|
June 9, 2012
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome
Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, et al.
Page
of 5