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Frontiers in Pediatrics|October 17, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome casesMaryam Najafi, Korbinian M Riedhammer, Aboulfazl Rad, et al.Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, et al.Journal of Neuromuscular Diseases|March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyStephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.Elife|December 22, 2020
KDM5A mutations identified in autism spectrum disorder using forward geneticsLauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, et al.Journal of Autism and Developmental Disorders|May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated PhenotypesIrene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.Nature Communications|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathyMicol Falabella, Sandra Lopez Calcerrada, Jana Aref, et al.Pageof 4