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Reza Maroofian

Showing results (101-110 of 276) with videos related to

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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.
Clinical Genetics|September 3, 2025
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 PatientsPegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, et al.
Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
Clinical Genetics|March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Brain : a Journal of Neurology|February 24, 2022
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
Pageof 28

Showing results (101-110 of 276) with videos related to

Sort By:
Pageof 28
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.
Clinical Genetics|September 3, 2025
Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 PatientsPegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, et al.
Clinical Genetics|March 10, 2023
The prevalence and phenotypic range associated with biallelic PKDCC variantsAlistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, et al.
Clinical Genetics|February 1, 2025
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous CohortSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.
Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
Clinical Genetics|March 24, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Dana Marafi, Ghada M H Abdel-Salam, et al.
Nature Communications|October 23, 2019
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegiaMatias Wagner, Daniel P S Osborn, Ina Gehweiler, et al.
Brain : a Journal of Neurology|February 24, 2022
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephalyChiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, et al.
European Journal of Human Genetics : EJHG|October 17, 2022
Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
Pageof 28