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Genes
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June 26, 2026
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review
Giuseppe Reynolds, Marta Calvo, Maria Luca, et al.
Genes
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February 27, 2026
CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP)
Anna Pau, Federico Rondot, Stefano Gambarino, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2025
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant
Giuseppe Reynolds, Ilaria Carelli, Federico Rondot, et al.
European Journal of Medical Genetics
|
May 17, 2026
VPS35L-Related Ritscher-Schinzel Syndrome: Expanding Genotype-Phenotype Correlations
Ilaria Carelli, Federico Rondot, Maria Luca, et al.
Genes
|
June 26, 2026
<i>TRAPPC9</i>-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant
Marta Calvo, Giuseppe Reynolds, Maria Luca, et al.
Genes
|
October 29, 2025
Expanding Clinical and Genetic Landscape of <i>SATB2</i>-Associated Syndrome
Verdiana Pullano, Federico Rondot, Ilaria Carelli, et al.
Cancers
|
December 17, 2024
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum
Diana Carli, Federico Rondot, Maria Luca, et al.
Scientific Reports
|
July 4, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders
Federico Rondot, Federica Centofanti, Anna Micaletto, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
Andrea Gazzin, Marta Calvo, Federico Rondot, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Genes
|
June 26, 2026
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair: A Systematic Review
Giuseppe Reynolds, Marta Calvo, Maria Luca, et al.
Genes
|
February 27, 2026
CASP8 and CASP3 mRNA Expression in Autoimmune Lymphoproliferative Syndrome (ALPS) and Chronic Immune Thrombocytopenia (ITP)
Anna Pau, Federico Rondot, Stefano Gambarino, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2025
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant
Giuseppe Reynolds, Ilaria Carelli, Federico Rondot, et al.
European Journal of Medical Genetics
|
May 17, 2026
VPS35L-Related Ritscher-Schinzel Syndrome: Expanding Genotype-Phenotype Correlations
Ilaria Carelli, Federico Rondot, Maria Luca, et al.
Genes
|
June 26, 2026
<i>TRAPPC9</i>-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant
Marta Calvo, Giuseppe Reynolds, Maria Luca, et al.
Genes
|
October 29, 2025
Expanding Clinical and Genetic Landscape of <i>SATB2</i>-Associated Syndrome
Verdiana Pullano, Federico Rondot, Ilaria Carelli, et al.
Cancers
|
December 17, 2024
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum
Diana Carli, Federico Rondot, Maria Luca, et al.
Scientific Reports
|
July 4, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders
Federico Rondot, Federica Centofanti, Anna Micaletto, et al.
European Journal of Human Genetics : EJHG
|
January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
Andrea Gazzin, Marta Calvo, Federico Rondot, et al.
Page
of 1