Search research articles
Contact Us
Filters
Showing results (131-140 of 146) with videos related to
Page
of 15
Sort By:
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
Francesca Clementina Radio, Giorgio Tasca, Sandra Coppens, 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.
Cell Death & Disease
|
November 21, 2022
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, et al.
ERJ Open Research
|
June 24, 2025
Severe Paediatric Asthma Collaborative in Europe: real-world data on children on biologics
Norrice M Liu, Mariëlle W Pijnenburg, Antoine Deschildre, et al.
European Journal of Human Genetics : EJHG
|
June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Journal of Medical Genetics
|
March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Human Mutation
|
February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Nancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
Clinical Genetics
|
May 6, 2021
ANKRD11 variants: KBG syndrome and beyond
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Page
of 15
Search research articles
Search
Showing results (131-140 of 146) with videos related to
Sort By:
Page
of 15
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly
Francesca Clementina Radio, Giorgio Tasca, Sandra Coppens, 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.
Cell Death & Disease
|
November 21, 2022
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, et al.
ERJ Open Research
|
June 24, 2025
Severe Paediatric Asthma Collaborative in Europe: real-world data on children on biologics
Norrice M Liu, Mariëlle W Pijnenburg, Antoine Deschildre, et al.
European Journal of Human Genetics : EJHG
|
June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Journal of Medical Genetics
|
March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Human Mutation
|
February 16, 2022
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Nancy Vegas, Zeynep Demir, Christopher T Gordon, et al.
Clinical Genetics
|
May 6, 2021
ANKRD11 variants: KBG syndrome and beyond
Ilaria Parenti, Mark B Mallozzi, Irina Hüning, et al.
Page
of 15