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Chiara Passarelli

Showing results (21-30 of 45) with videos related to

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Diagnostics (Basel, Switzerland)|September 23, 2022
A Novel Autosomal Recessive Variant of the <i>NRL</i> Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric PatientsGiancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, et al.
Journal of the Neurological Sciences|September 15, 2009
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalitiesMarco Sparaco, Laura Maria Gaeta, Filippo Maria Santorelli, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patientsMaria Cristina Digilio, Maria Gnazzo, Francesca Lepri, et al.
Pediatrics and Neonatology|December 13, 2025
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature reviewGioacchino Andrea Rotulo, Lorenzo Sinibaldi, Elisa Profeti, et al.
Clinical Immunology (Orlando, Fla.)|April 13, 2023
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotypeMaria Chiriaco, Arianna De Matteis, Cristina Cifaldi, et al.
Frontiers in Genetics|November 16, 2020
<i>IFNAR2</i> Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic LymphohistiocytosisChiara Passarelli, Adele Civino, Marianna N Rossi, et al.
Frontiers in Immunology|February 14, 2022
Identification of a Novel Mutation in <i>TNFAIP3</i> in a Family With Poly-AutoimmunityMarianna Nicoletta Rossi, Silvia Federici, Andrea Uva, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|February 22, 2021
Early Treatment and IL1RN Single-Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic ArthritisManuela Pardeo, Marianna Nicoletta Rossi, Denise Pires Marafon, et al.
HLA|August 23, 2020
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patientsAntonio Novelli, Marco Andreani, Michela Biancolella, et al.
Heliyon|October 7, 2020
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patientsFrancesca Amati, Chiara Vancheri, Andrea Latini, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Diagnostics (Basel, Switzerland)|September 23, 2022
A Novel Autosomal Recessive Variant of the <i>NRL</i> Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric PatientsGiancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, et al.
Journal of the Neurological Sciences|September 15, 2009
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalitiesMarco Sparaco, Laura Maria Gaeta, Filippo Maria Santorelli, et al.
American Journal of Medical Genetics. Part A|September 9, 2017
Congenital heart defects in molecularly proven Kabuki syndrome patientsMaria Cristina Digilio, Maria Gnazzo, Francesca Lepri, et al.
Pediatrics and Neonatology|December 13, 2025
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature reviewGioacchino Andrea Rotulo, Lorenzo Sinibaldi, Elisa Profeti, et al.
Clinical Immunology (Orlando, Fla.)|April 13, 2023
Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotypeMaria Chiriaco, Arianna De Matteis, Cristina Cifaldi, et al.
Frontiers in Genetics|November 16, 2020
<i>IFNAR2</i> Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic LymphohistiocytosisChiara Passarelli, Adele Civino, Marianna N Rossi, et al.
Frontiers in Immunology|February 14, 2022
Identification of a Novel Mutation in <i>TNFAIP3</i> in a Family With Poly-AutoimmunityMarianna Nicoletta Rossi, Silvia Federici, Andrea Uva, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|February 22, 2021
Early Treatment and IL1RN Single-Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic ArthritisManuela Pardeo, Marianna Nicoletta Rossi, Denise Pires Marafon, et al.
HLA|August 23, 2020
HLA allele frequencies and susceptibility to COVID-19 in a group of 99 Italian patientsAntonio Novelli, Marco Andreani, Michela Biancolella, et al.
Heliyon|October 7, 2020
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patientsFrancesca Amati, Chiara Vancheri, Andrea Latini, et al.
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