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Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
May 9, 2025
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis
Lucia Micale, Ester Di Muro, Rossella De Cegli, et al.
Journal of Neuro-Oncology
|
August 13, 2025
Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study
Claudia Santoro, Mariachiara Servedio, Maria Cristina Diana, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants
Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Human Molecular Genetics
|
March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Marialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
American Journal of Human Genetics
|
April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Marcello Niceta, Emilia Stellacci, Karen W Gripp, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A Stevenson, Lisa Schill, Lisa Schoyer, et al.
Cancers
|
October 14, 2023
Vessel-Guided Mesohepatectomy for Liver Partition and Staged Major Parenchyma-Sparing Hepatectomies with Super-Selective Portal Vein Embolization or Enhanced ALPPS to Achieve R0 Resection for Colorectal Liver Metastases at the Hepatocaval Confluence
Lucio Urbani, Nicolò Roffi, Roberto Moretto, et al.
American Journal of Human Genetics
|
December 22, 2020
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Brooke Sadler, Jackson Wilborn, Lilian Antunes, 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.
HGG Advances
|
August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
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Search research articles
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Showing results (121-130 of 146) with videos related to
Sort By:
Page
of 15
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
May 9, 2025
Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis
Lucia Micale, Ester Di Muro, Rossella De Cegli, et al.
Journal of Neuro-Oncology
|
August 13, 2025
Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study
Claudia Santoro, Mariachiara Servedio, Maria Cristina Diana, et al.
European Journal of Human Genetics : EJHG
|
February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants
Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Human Molecular Genetics
|
March 29, 2022
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
Marialetizia Motta, Maja Solman, Adeline A Bonnard, et al.
American Journal of Human Genetics
|
April 14, 2015
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Marcello Niceta, Emilia Stellacci, Karen W Gripp, et al.
American Journal of Medical Genetics. Part A
|
May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
David A Stevenson, Lisa Schill, Lisa Schoyer, et al.
Cancers
|
October 14, 2023
Vessel-Guided Mesohepatectomy for Liver Partition and Staged Major Parenchyma-Sparing Hepatectomies with Super-Selective Portal Vein Embolization or Enhanced ALPPS to Achieve R0 Resection for Colorectal Liver Metastases at the Hepatocaval Confluence
Lucio Urbani, Nicolò Roffi, Roberto Moretto, et al.
American Journal of Human Genetics
|
December 22, 2020
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Brooke Sadler, Jackson Wilborn, Lilian Antunes, 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.
HGG Advances
|
August 30, 2024
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, et al.
Page
of 15