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Claudio Pignata

Showing results (101-110 of 149) with videos related to

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Frontiers in Immunology|February 7, 2025
Characterization of a <i>WAS</i> splice-site variant in a patient with Wiskott-Aldrich syndromeElisabetta Toriello, Rosa Maritato, Antonio De Rosa, et al.
Heart Failure Clinics|November 15, 2021
Clinical Manifestations of 22q11.2 Deletion SyndromeAnnapaola Cirillo, Michele Lioncino, Annachiara Maratea, et al.
The Journal of Clinical Endocrinology and Metabolism|July 28, 2021
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi)Emily Cottrell, Avinaash Maharaj, Jack Williams, et al.
Journal of Clinical Immunology|December 22, 2019
Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet)Federica Pulvirenti, Maria Sangerardi, Alessandro Plebani, et al.
The Journal of Clinical Endocrinology and Metabolism|August 28, 2021
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone InsensitivityEmily Cottrell, Avinaash Maharaj, Jack Williams, et al.
BMC Medical Genetics|January 4, 2014
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjectsEmilia Cirillo, Giuliana Giardino, Vera Gallo, et al.
Blood|October 28, 2010
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 casesM Louise Markert, José G Marques, Bénédicte Neven, et al.
Frontiers in Pediatrics|June 25, 2026
Italian healthcare professionals' real-world experience with immunization in children of non-European origin: the Vax4globe surveyViviana Moschese, Simona Graziani, Antonietta Spadea, et al.
Human Mutation|December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
Journal of Clinical Immunology|December 23, 2024
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy EraFederica Barzaghi, Mattia Moratti, Giuseppina Panza, et al.
Pageof 15

Showing results (101-110 of 149) with videos related to

Sort By:
Pageof 15
Frontiers in Immunology|February 7, 2025
Characterization of a <i>WAS</i> splice-site variant in a patient with Wiskott-Aldrich syndromeElisabetta Toriello, Rosa Maritato, Antonio De Rosa, et al.
Heart Failure Clinics|November 15, 2021
Clinical Manifestations of 22q11.2 Deletion SyndromeAnnapaola Cirillo, Michele Lioncino, Annachiara Maratea, et al.
The Journal of Clinical Endocrinology and Metabolism|July 28, 2021
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi)Emily Cottrell, Avinaash Maharaj, Jack Williams, et al.
Journal of Clinical Immunology|December 22, 2019
Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet)Federica Pulvirenti, Maria Sangerardi, Alessandro Plebani, et al.
The Journal of Clinical Endocrinology and Metabolism|August 28, 2021
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone InsensitivityEmily Cottrell, Avinaash Maharaj, Jack Williams, et al.
BMC Medical Genetics|January 4, 2014
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjectsEmilia Cirillo, Giuliana Giardino, Vera Gallo, et al.
Blood|October 28, 2010
First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 casesM Louise Markert, José G Marques, Bénédicte Neven, et al.
Frontiers in Pediatrics|June 25, 2026
Italian healthcare professionals' real-world experience with immunization in children of non-European origin: the Vax4globe surveyViviana Moschese, Simona Graziani, Antonietta Spadea, et al.
Human Mutation|December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
Journal of Clinical Immunology|December 23, 2024
Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy EraFederica Barzaghi, Mattia Moratti, Giuseppina Panza, et al.
Pageof 15