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Orphanet Journal of Rare Diseases
|
July 23, 2024
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, et al.
Genes
|
April 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
Federica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo, et al.
Cancers
|
November 27, 2024
Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives
Pierluigi Russo, Francesco Pio Bizzarri, Giovanni Battista Filomena, et al.
European Heart Journal
|
September 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Roddy Walsh, Arnon Adler, Ahmad S Amin, et al.
Orphanet Journal of Rare Diseases
|
April 23, 2026
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, et al.
Clinical Genetics
|
July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Breast (Edinburgh, Scotland)
|
November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Frontiers in Immunology
|
July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort
Benedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
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Search research articles
Search
Showing results (21-30 of 31) with videos related to
Sort By:
Page
of 4
Orphanet Journal of Rare Diseases
|
July 23, 2024
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment
Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, et al.
Genes
|
April 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy
Federica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo, et al.
Cancers
|
November 27, 2024
Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives
Pierluigi Russo, Francesco Pio Bizzarri, Giovanni Battista Filomena, et al.
European Heart Journal
|
September 24, 2021
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
Roddy Walsh, Arnon Adler, Ahmad S Amin, et al.
Orphanet Journal of Rare Diseases
|
April 23, 2026
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype
Chiara Leoni, Germana Viscogliosi, Deborah Pajalunga, et al.
Clinical Genetics
|
July 17, 2023
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, et al.
American Journal of Medical Genetics. Part A
|
November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
Breast (Edinburgh, Scotland)
|
November 11, 2025
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
Niccolò Di Giosaffatte, Paola Daniele, Francesco Petrizzelli, et al.
Frontiers in Immunology
|
July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort
Benedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, et al.
Page
of 4