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European Journal of Human Genetics : EJHG
|
February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
Simona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.
Clinical Genetics
|
August 9, 2023
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Domizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 21, 2010
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
Simona Giovannini, Daniele Frattini, Angela Scarano, et al.
Stem Cell Research
|
June 6, 2022
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, et al.
Plos One
|
June 13, 2017
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use
Silvia D'ippolito, Nicoletta Di Simone, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A
|
December 12, 2017
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
Giuseppe Marangi, Marilena C Di Giacomo, Serena Lattante, et al.
Genes
|
February 25, 2023
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in <i>MFSD8</i>
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, et al.
International Journal of Molecular Sciences
|
January 11, 2024
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, et al.
European Journal of Human Genetics : EJHG
|
March 21, 2013
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
Fiorella Gurrieri, Marcella Zollino, Antonio Oliva, et al.
Plos One
|
January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elements
Marco Savarese, Giulio Piluso, Daniela Orteschi, et al.
Page
of 5
Search research articles
Search
Showing results (21-30 of 48) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
Simona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.
Clinical Genetics
|
August 9, 2023
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype
Domizia Pasquetti, Federica Francesca L'Erario, Giuseppe Marangi, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 21, 2010
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome
Simona Giovannini, Daniele Frattini, Angela Scarano, et al.
Stem Cell Research
|
June 6, 2022
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, et al.
Plos One
|
June 13, 2017
The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use
Silvia D'ippolito, Nicoletta Di Simone, Daniela Orteschi, et al.
American Journal of Medical Genetics. Part A
|
December 12, 2017
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
Giuseppe Marangi, Marilena C Di Giacomo, Serena Lattante, et al.
Genes
|
February 25, 2023
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in <i>MFSD8</i>
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, et al.
International Journal of Molecular Sciences
|
January 11, 2024
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, et al.
European Journal of Human Genetics : EJHG
|
March 21, 2013
Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p
Fiorella Gurrieri, Marcella Zollino, Antonio Oliva, et al.
Plos One
|
January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elements
Marco Savarese, Giulio Piluso, Daniela Orteschi, et al.
Page
of 5