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Showing results (681-690 of 717) with videos related to

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Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, 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 variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Rheumatology International|June 21, 2014
Work instability in rheumatoid arthritis patients from Argentina: prevalence and associated factorsMaria N Tamborenea, Cecilia Pisoni, Sergio Toloza, et al.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
JAMA Neurology|November 2, 2016
Assessment of the Incremental Diagnostic Value of Florbetapir F 18 Imaging in Patients With Cognitive Impairment: The Incremental Diagnostic Value of Amyloid PET With [18F]-Florbetapir (INDIA-FBP) StudyMarina Boccardi, Daniele Altomare, Clarissa Ferrari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndromeGerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Lupus|November 18, 2024
Current smoking is related to severe damage in systemic lupus erythematosus patientsM A Cosatti, S A Muñoz, M T Tamborenea, et al.
Pageof 72

Showing results (681-690 of 717) with videos related to

Sort By:
Pageof 72
Nature Communications|February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological diseaseLindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, 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 variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.
Rheumatology International|June 21, 2014
Work instability in rheumatoid arthritis patients from Argentina: prevalence and associated factorsMaria N Tamborenea, Cecilia Pisoni, Sergio Toloza, et al.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
JAMA Neurology|November 2, 2016
Assessment of the Incremental Diagnostic Value of Florbetapir F 18 Imaging in Patients With Cognitive Impairment: The Incremental Diagnostic Value of Amyloid PET With [18F]-Florbetapir (INDIA-FBP) StudyMarina Boccardi, Daniele Altomare, Clarissa Ferrari, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndromeGerarda Cappuccio, Camille Sayou, Pauline Le Tanno, et al.
Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.
Lupus|November 18, 2024
Current smoking is related to severe damage in systemic lupus erythematosus patientsM A Cosatti, S A Muñoz, M T Tamborenea, et al.
Pageof 72