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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.
Marine Drugs|July 28, 2023
Tissue Extract from Brittle Star Undergoing Arm Regeneration Promotes Wound Healing in RatAlireza Afshar, Arezoo Khoradmehr, Fariborz Nowzari, et al.
Journal of Medical Genetics|November 30, 2018
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive <i>c</i>erebellar, <i>o</i>cular, cranio<i>f</i>acial and <i>g</i>enital features (COFG syndrome)Abolfazl Rad, Umut Altunoglu, Rebecca Miller, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2023
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorderChristian A E Westrip, Franziska Paul, Fathiya Al-Murshedi, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.
Archives of Iranian Medicine|July 14, 2020
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot StudyHamideh Sabbaghi, Narsis Daftarian, Fatemeh Suri, et al.
Human Mutation|December 7, 2018
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic functionAtteeq U Rehman, Maryam Najafi, Marios Kambouris, et al.
Brain : a Journal of Neurology|September 11, 2019
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelinationStephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, et al.
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