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Giulio Piluso

Showing results (61-70 of 90) with videos related to

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Kidney International Reports|February 24, 2025
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial EtiologyMiriam Zacchia, Floriana Secondulfo, Andrea Melluso, et al.
Genes|December 30, 2025
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in <i>NRAP</i>Maria Elena Onore, Martina Caiazza, Catia Mio, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 26, 2012
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patientsLuigia Passamano, Antonella Taglia, Alberto Palladino, et al.
Genes|July 27, 2022
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive PhenotypeFilomena Napolitano, Milena Dell'Aquila, Chiara Terracciano, et al.
Children (Basel, Switzerland)|March 28, 2025
A Novel Missense Variant in <i>LHX4</i> in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional <i>GLI2</i> and <i>IGFR1</i> VariantClaudia Santoro, Francesca Aiello, Antonella Farina, et al.
Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.
Journal of Neurology|July 7, 2023
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4AAnnalaura Torella, Ivana Ricca, Giulio Piluso, et al.
Genes|March 29, 2023
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV NephropathiesMiriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, et al.
Journal of Nephrology|May 8, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutationMiriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, et al.
Frontiers in Medicine|July 3, 2026
A case of Incontinentia Pigmenti associated with concurrent <i>IKBKG/NEMO</i> and <i>MED13L</i> mutationsEzia Spinosa, Jeremie Rosain, Stefania Picascia, et al.
Pageof 9

Showing results (61-70 of 90) with videos related to

Sort By:
Pageof 9
Kidney International Reports|February 24, 2025
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial EtiologyMiriam Zacchia, Floriana Secondulfo, Andrea Melluso, et al.
Genes|December 30, 2025
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in <i>NRAP</i>Maria Elena Onore, Martina Caiazza, Catia Mio, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|October 26, 2012
Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patientsLuigia Passamano, Antonella Taglia, Alberto Palladino, et al.
Genes|July 27, 2022
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent <i>NF1</i> Gene Variants and Correlations with Neurocognitive PhenotypeFilomena Napolitano, Milena Dell'Aquila, Chiara Terracciano, et al.
Children (Basel, Switzerland)|March 28, 2025
A Novel Missense Variant in <i>LHX4</i> in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional <i>GLI2</i> and <i>IGFR1</i> VariantClaudia Santoro, Francesca Aiello, Antonella Farina, et al.
Clinical Chemistry|September 8, 2011
Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disordersGiulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco, et al.
Journal of Neurology|July 7, 2023
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4AAnnalaura Torella, Ivana Ricca, Giulio Piluso, et al.
Genes|March 29, 2023
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV NephropathiesMiriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, et al.
Journal of Nephrology|May 8, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutationMiriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, et al.
Frontiers in Medicine|July 3, 2026
A case of Incontinentia Pigmenti associated with concurrent <i>IKBKG/NEMO</i> and <i>MED13L</i> mutationsEzia Spinosa, Jeremie Rosain, Stefania Picascia, et al.
Pageof 9