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Giulio Piluso

Showing results (31-40 of 90) with videos related to

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Genes|January 23, 2024
A Novel Homozygous Loss-of-Function Variant in <i>SPRED2</i> Causes Autosomal Recessive Noonan-like SyndromeMaria Elena Onore, Martina Caiazza, Antonella Farina, et al.
Clinical Chemistry|April 24, 2003
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia allelesAngela Tammaro, Adele Bracco, Santolo Cozzolino, et al.
BMC Medical Genetics|April 29, 2014
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesClaudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli, et al.
Plos Genetics|May 22, 2023
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary regionSerena Capasso, Giovanna Cardiero, Gennaro Musollino, et al.
Italian Journal of Pediatrics|March 24, 2018
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?Claudia Santoro, Pia Bernardo, Antonietta Coppola, et al.
Plos One|August 20, 2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD geneAnnalaura Torella, Mariateresa Zanobio, Roberta Zeuli, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 21, 2016
Novel mutations in LMNA A/C gene and associated phenotypesRoberta Petillo, Paola D'Ambrosio, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
American Journal of Medical Genetics. Part A|September 15, 2023
An atypical Aymé-Gripp phenotype detected by exome sequencingMartina Caiazza, Alberto Budillon, Emanuele Monda, et al.
European Journal of Human Genetics : EJHG|April 8, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
Pageof 9

Showing results (31-40 of 90) with videos related to

Sort By:
Pageof 9
Genes|January 23, 2024
A Novel Homozygous Loss-of-Function Variant in <i>SPRED2</i> Causes Autosomal Recessive Noonan-like SyndromeMaria Elena Onore, Martina Caiazza, Antonella Farina, et al.
Clinical Chemistry|April 24, 2003
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia allelesAngela Tammaro, Adele Bracco, Santolo Cozzolino, et al.
BMC Medical Genetics|April 29, 2014
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathiesClaudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli, et al.
Plos Genetics|May 22, 2023
Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary regionSerena Capasso, Giovanna Cardiero, Gennaro Musollino, et al.
Italian Journal of Pediatrics|March 24, 2018
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?Claudia Santoro, Pia Bernardo, Antonietta Coppola, et al.
Plos One|August 20, 2020
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD geneAnnalaura Torella, Mariateresa Zanobio, Roberta Zeuli, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|May 21, 2016
Novel mutations in LMNA A/C gene and associated phenotypesRoberta Petillo, Paola D'Ambrosio, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
American Journal of Medical Genetics. Part A|September 15, 2023
An atypical Aymé-Gripp phenotype detected by exome sequencingMartina Caiazza, Alberto Budillon, Emanuele Monda, et al.
European Journal of Human Genetics : EJHG|April 8, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
Pageof 9