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Orphanet Journal of Rare Diseases
|
April 21, 2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, et al.
Clinical Biochemistry
|
May 4, 2011
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling
Anna Cristina Tomaiuolo, Pietro Sirleto, Claudia Centrone, et al.
BMC Medical Genomics
|
February 13, 2013
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6
Laura Ciocca, Cecilia Surace, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patients
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, et al.
Oncogene
|
April 24, 2002
Loss of methylation at chromosome 11p15.5 is common in human adult tumors
Rosaria A M Scelfo, Christine Schwienbacher, Angelo Veronese, et al.
Plos One
|
November 9, 2013
High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma
Paolo Romania, Aurora Castellano, Cecilia Surace, et al.
Anticancer Research
|
December 16, 2014
Baseline central nervous system magnetic resonance imaging in early detection of trilateral retinoblastoma: pitfalls in the diagnosis of pineal gland lesions
Maria Antonietta De Ioris, Paola Valente, Francesco Randisi, et al.
American Journal of Medical Genetics. Part A
|
February 10, 2015
Hypoplastic left heart syndrome and 21q22.3 deletion
Laura Ciocca, M Cristina Digilio, Antonietta Lombardo, et al.
Immunology Letters
|
November 7, 2016
NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2
Loredana Cifaldi, Rita Maria Pinto, Ippolita Rana, et al.
European Journal of Human Genetics : EJHG
|
July 12, 2012
Atrioventricular canal defect in patients with RASopathies
Maria Cristina Digilio, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 42) with videos related to
Sort By:
Page
of 5
Orphanet Journal of Rare Diseases
|
April 21, 2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, et al.
Clinical Biochemistry
|
May 4, 2011
Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling
Anna Cristina Tomaiuolo, Pietro Sirleto, Claudia Centrone, et al.
BMC Medical Genomics
|
February 13, 2013
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6
Laura Ciocca, Cecilia Surace, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patients
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, et al.
Oncogene
|
April 24, 2002
Loss of methylation at chromosome 11p15.5 is common in human adult tumors
Rosaria A M Scelfo, Christine Schwienbacher, Angelo Veronese, et al.
Plos One
|
November 9, 2013
High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma
Paolo Romania, Aurora Castellano, Cecilia Surace, et al.
Anticancer Research
|
December 16, 2014
Baseline central nervous system magnetic resonance imaging in early detection of trilateral retinoblastoma: pitfalls in the diagnosis of pineal gland lesions
Maria Antonietta De Ioris, Paola Valente, Francesco Randisi, et al.
American Journal of Medical Genetics. Part A
|
February 10, 2015
Hypoplastic left heart syndrome and 21q22.3 deletion
Laura Ciocca, M Cristina Digilio, Antonietta Lombardo, et al.
Immunology Letters
|
November 7, 2016
NK cell effector functions in a Chédiak-Higashi patient undergoing cord blood transplantation: Effects of in vitro treatment with IL-2
Loredana Cifaldi, Rita Maria Pinto, Ippolita Rana, et al.
European Journal of Human Genetics : EJHG
|
July 12, 2012
Atrioventricular canal defect in patients with RASopathies
Maria Cristina Digilio, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Page
of 5