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Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.Seizure|May 10, 2026
Uridine-responsive epileptic encephalopathy: Precision treatment across the age spectrum - a case seriesGurdeep Sekhon, Ana Perez Caballero, Christin Eltze, et al.Brain Communications|August 23, 2021
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndromeLaura Powell, Eric Olinger, Sarah Wedderburn, et al.European Journal of Human Genetics : EJHG|June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literatureP Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.Kidney International|November 12, 2021
The characteristics of patients with kidney light chain deposition disease concurrent with light chain amyloidosisSamar M Said, Alejandro Best Rocha, Anthony M Valeri, et al.Genetics Research|January 13, 2015
Organization for rare diseases India (ORDI) - addressing the challenges and opportunities for the Indian rare diseases' communityHarsha Karur Rajasimha, Prasannakumar Basayya Shirol, Preveen Ramamoorthy, et al.American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, et al.Pageof 15