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Muhammad Mahajnah

Showing results (31-40 of 52) with videos related to

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Brain Sciences|February 25, 2023
Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor CerebriRony Cohen, Muhammad Mahajnah, Yulia Shlonsky, et al.
Pediatric Neurology|May 24, 2016
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1Muhammad Mahajnah, Dawn Corderio, Valerie Austin, et al.
European Journal of Human Genetics : EJHG|February 17, 2019
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathyMalay Patra, Celeste Weiss, Bassam Abu-Libdeh, et al.
Genes|June 27, 2024
<i>SCAPER</i>-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics AnalysesRajech Sharkia, Abdelnaser Zalan, Amit Kessel, et al.
Minerva Medica|March 14, 2020
Pre-endoscopic tachycardia predicts increased sedation dose and lower adenoma detection rate in patients undergoing endoscopic procedures: a case control studyAmir Mari, Tawfik Khoury, Muhammad Mahajnah, et al.
Biorxiv : the Preprint Server for Biology|June 3, 2024
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Eyal Paz, Sahil Jain, Irit Gottfried, et al.
Elife|December 16, 2024
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Eyal Paz, Sahil Jain, Irit Gottfried, et al.
Genes|January 8, 2025
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New <i>PTRH2</i> Gene VariantsRajech Sharkia, Marie-Laure Vuillaume, Sahil Jain, et al.
American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
Pageof 6

Showing results (31-40 of 52) with videos related to

Sort By:
Pageof 6
Brain Sciences|February 25, 2023
Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor CerebriRony Cohen, Muhammad Mahajnah, Yulia Shlonsky, et al.
Pediatric Neurology|May 24, 2016
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1Muhammad Mahajnah, Dawn Corderio, Valerie Austin, et al.
European Journal of Human Genetics : EJHG|February 17, 2019
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathyMalay Patra, Celeste Weiss, Bassam Abu-Libdeh, et al.
Genes|June 27, 2024
<i>SCAPER</i>-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics AnalysesRajech Sharkia, Abdelnaser Zalan, Amit Kessel, et al.
Minerva Medica|March 14, 2020
Pre-endoscopic tachycardia predicts increased sedation dose and lower adenoma detection rate in patients undergoing endoscopic procedures: a case control studyAmir Mari, Tawfik Khoury, Muhammad Mahajnah, et al.
Biorxiv : the Preprint Server for Biology|June 3, 2024
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Eyal Paz, Sahil Jain, Irit Gottfried, et al.
Elife|December 16, 2024
Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50Eyal Paz, Sahil Jain, Irit Gottfried, et al.
Genes|January 8, 2025
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New <i>PTRH2</i> Gene VariantsRajech Sharkia, Marie-Laure Vuillaume, Sahil Jain, et al.
American Journal of Human Genetics|December 17, 2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran H Mochida, Muhammad Mahajnah, Anthony D Hill, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian AuthorityAnja K Mayer, Ghassan Balousha, Rajech Sharkia, et al.
Pageof 6