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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.
Orphanet Journal of Rare Diseases
|
July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences
Anna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Human Molecular Genetics
|
September 11, 2021
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species
Giovanna Carpentieri, Chiara Leoni, Donatella Pietraforte, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Valentina Pinna, Valentina Lanari, Paola Daniele, 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.
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.
European Journal of Human Genetics : EJHG
|
June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Andrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Clinical Genetics
|
July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
Diana Carli, Matteo Operti, Silvia Russo, et al.
European Journal of Pediatrics
|
January 20, 2022
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
Gloria Ferrantini, Giorgia Coratti, Roberta Onesimo, et al.
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Search research articles
Search
Showing results (111-120 of 146) with videos related to
Sort By:
Page
of 15
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.
Orphanet Journal of Rare Diseases
|
July 17, 2025
Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences
Anna Elsa Maria Allegri, Maria Francesca Bedeschi, Maria Beatrice Bocchi, et al.
Human Molecular Genetics
|
September 11, 2021
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species
Giovanna Carpentieri, Chiara Leoni, Donatella Pietraforte, et al.
European Journal of Human Genetics : EJHG
|
November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Valentina Pinna, Valentina Lanari, Paola Daniele, 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.
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.
European Journal of Human Genetics : EJHG
|
June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Andrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Clinical Genetics
|
July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
Diana Carli, Matteo Operti, Silvia Russo, et al.
European Journal of Pediatrics
|
January 20, 2022
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
Gloria Ferrantini, Giorgia Coratti, Roberta Onesimo, et al.
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of 15