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Reza Maroofian

Showing results (111-120 of 276) with videos related to

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Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
Elife|December 22, 2020
<i>KDM5A</i> mutations identified in autism spectrum disorder using forward geneticsLauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, et al.
Nature Communications|October 2, 2020
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Nature Communications|September 16, 2020
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
Brain Communications|October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Pageof 28

Showing results (111-120 of 276) with videos related to

Sort By:
Pageof 28
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.
Elife|December 22, 2020
<i>KDM5A</i> mutations identified in autism spectrum disorder using forward geneticsLauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, et al.
Nature Communications|October 2, 2020
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
American Journal of Human Genetics|May 15, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndromeLore Pottie, Christin S Adamo, Aude Beyens, et al.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Nature Communications|September 16, 2020
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular diseasePaige B Martin, Yu Kigoshi-Tansho, Roger B Sher, et al.
Brain Communications|October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
American Journal of Human Genetics|November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Pageof 28