Maryam H. Najafi
Groningen, GR, Netherlands
Last Updated: 09/26/2026
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Found 26 publications
AMS-HD: Hyperdimensional Computing for Real-Time and Energy-Efficient Acute Mountain Sickness Detection.
Journal: IEEE transactions on bio-medical engineering
Published: June 16, 2026
RNU4-2 monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity.
Journal: Journal of medical genetics
Published: December 13, 2024
Magicity versus Superfluidity around ^{28}O viewed from the Study of ^{30}F.
Journal: Physical review letters
Published: September 11, 2023
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 11, 2022
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.
Journal: Journal of clinical medicine
Published: September 26, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Journal: Frontiers in pediatrics
Published: June 21, 2022
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Journal: Brain : a journal of neurology
Published: May 18, 2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Journal: Orphanet journal of rare diseases
Published: May 15, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: May 13, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: July 24, 2020
Last Updated: 09/26/2026