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Narges Hashemi

Showing results (31-40 of 43) with videos related to

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Pediatric Neurology|February 3, 2026
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort StudyParia Najarzadeh Torbati, Mostafa Salehirozveh, Mehran Beiraghi Toosi, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 13, 2024
The diagnostic value of MRI findings in pediatric idiopathic intracranial hypertension: a case-control studyFarrokh Seilanian Toosi, Narges Hashemi, Maryam Emadzadeh, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromeAboulfazl Rad, Maryam Najafi, Fatemeh Suri, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Annals of Clinical and Translational Neurology|July 26, 2022
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathyHormos Salimi Dafsari, Joshua G Pemberton, Elizabeth A Ferrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
American Journal of Human Genetics|May 19, 2021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Pediatric Neurology|February 3, 2026
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort StudyParia Najarzadeh Torbati, Mostafa Salehirozveh, Mehran Beiraghi Toosi, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|March 13, 2024
The diagnostic value of MRI findings in pediatric idiopathic intracranial hypertension: a case-control studyFarrokh Seilanian Toosi, Narges Hashemi, Maryam Emadzadeh, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromeAboulfazl Rad, Maryam Najafi, Fatemeh Suri, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Annals of Clinical and Translational Neurology|July 26, 2022
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathyHormos Salimi Dafsari, Joshua G Pemberton, Elizabeth A Ferrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
Brain Communications|February 18, 2025
Biallelic <i>NDUFA13</i> variants lead to a neurodevelopmental phenotype with gradual neurological impairmentRauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, et al.
American Journal of Human Genetics|May 19, 2021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.
Pageof 5