Showing results (1-10 of 3) with videos related to

Sort By:
Pageof 1
Mitochondrion|February 2, 2025
Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findingsJaakko Oikarainen, Reetta Hinttala, Naemeh Nayebzadeh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
The Journal of Allergy and Clinical Immunology|March 4, 2021
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunctionMeri Kaustio, Naemeh Nayebzadeh, Reetta Hinttala, et al.
Pageof 1