Showing results (11-20 of 18) with videos related to
Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Journal of the Neurological Sciences|July 5, 2024
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world settingNoga Lempel, Shahar Shelly, Odelia Chorin, et al.Neurology. Genetics|October 27, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1Alison M R Castle, Smrithi Salian, Haim Bassan, et al.Frontiers in Genetics|March 31, 2023
Hereditary orotic aciduria identified by newborn screeningOrna Staretz-Chacham, Nadirah S Damseh, Suha Daas, et al.Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.Journal of Inherited Metabolic Disease|December 14, 2022
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemiaSuha Daas, Nasser Abu Salah, Yair Anikster, et al.Journal of Inherited Metabolic Disease|September 25, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newbornsRachel Rock, Oded Rock, Suha Daas, et al.Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.Pageof 2