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Reza Maroofian

Showing results (61-70 of 276) with videos related to

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American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.
American Journal of Human Genetics|April 16, 2019
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of MicrogliaNynke Oosterhof, Irene J Chang, Ehsan Ghayoor Karimiani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1BTomer Poleg, Noam Hadar, Eyal Kristal, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Genes|January 21, 2023
Genetic Insights from Consanguineous Cardiomyopathy FamiliesConstance Maurer, Olga Boleti, Paria Najarzadeh Torbati, et al.
Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.
NPJ Genomic Medicine|March 7, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Pageof 28

Showing results (61-70 of 276) with videos related to

Sort By:
Pageof 28
American Journal of Human Genetics|March 30, 2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and SeizuresTiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Brain : a Journal of Neurology|June 27, 2022
Mutations in TAF8 cause a neurodegenerative disorderKeit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, et al.
American Journal of Human Genetics|April 16, 2019
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of MicrogliaNynke Oosterhof, Irene J Chang, Ehsan Ghayoor Karimiani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1BTomer Poleg, Noam Hadar, Eyal Kristal, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Genes|January 21, 2023
Genetic Insights from Consanguineous Cardiomyopathy FamiliesConstance Maurer, Olga Boleti, Paria Najarzadeh Torbati, et al.
Genome Medicine|December 24, 2017
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathiesReza Maroofian, Moniek Riemersma, Lucas T Jae, et al.
NPJ Genomic Medicine|March 7, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Pageof 28