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Orphanet Journal of Rare Diseases
|
April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
Research Square
|
November 14, 2023
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder
Elena Bacchelli, Marta Viggiano, Fabiola Ceroni, et al.
Clinical Genetics
|
December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice
Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
NPJ Genomic Medicine
|
March 23, 2024
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Marta Viggiano, Fabiola Ceroni, Paola Visconti, et al.
Genes
|
March 3, 2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, et al.
European Journal of Pediatrics
|
May 6, 2022
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
Marika Pane, Maria Alice Donati, Costanza Cutrona, et al.
International Journal of Molecular Sciences
|
December 17, 2024
Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity
Serena Spartano, Maria Vittoria Faggiano, Giovanna Guidi, et al.
European Journal of Pediatrics
|
April 18, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Marika Pane, Giulia Stanca, Chiara Ticci, et al.
Journal of Medical Genetics
|
November 22, 2022
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, et al.
Orphanet Journal of Rare Diseases
|
March 8, 2024
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Orphanet Journal of Rare Diseases
|
April 13, 2017
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, et al.
Research Square
|
November 14, 2023
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder
Elena Bacchelli, Marta Viggiano, Fabiola Ceroni, et al.
Clinical Genetics
|
December 21, 2024
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice
Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, et al.
NPJ Genomic Medicine
|
March 23, 2024
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Marta Viggiano, Fabiola Ceroni, Paola Visconti, et al.
Genes
|
March 3, 2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, et al.
European Journal of Pediatrics
|
May 6, 2022
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
Marika Pane, Maria Alice Donati, Costanza Cutrona, et al.
International Journal of Molecular Sciences
|
December 17, 2024
Sex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity
Serena Spartano, Maria Vittoria Faggiano, Giovanna Guidi, et al.
European Journal of Pediatrics
|
April 18, 2024
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
Marika Pane, Giulia Stanca, Chiara Ticci, et al.
Journal of Medical Genetics
|
November 22, 2022
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, et al.
Orphanet Journal of Rare Diseases
|
March 8, 2024
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, et al.
Page
of 3