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Piotr Gasperowicz

Showing results (21-30 of 27) with videos related to

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Human Molecular Genetics|August 21, 2018
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaRobert Smigiel, Diane L Sherman, Malgorzata Rydzanicz, et al.
Human Molecular Genetics|January 31, 2021
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphyAnna Materna-Kiryluk, Agnieszka Pollak, Karol Gawalski, et al.
Journal of Neurology|July 15, 2019
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variantsFrancesco Nicita, Fabrizia Stregapede, Alessandra Tessa, et al.
Journal of Clinical Medicine|July 17, 2020
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care UnitRobert Śmigiel, Mateusz Biela, Krzysztof Szmyd, et al.
Journal of Medical Genetics|March 3, 2018
Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic featuresAnna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
Epilepsia|December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathyBenedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Pageof 3

Showing results (21-30 of 27) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
Human Molecular Genetics|August 21, 2018
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaRobert Smigiel, Diane L Sherman, Malgorzata Rydzanicz, et al.
Human Molecular Genetics|January 31, 2021
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphyAnna Materna-Kiryluk, Agnieszka Pollak, Karol Gawalski, et al.
Journal of Neurology|July 15, 2019
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variantsFrancesco Nicita, Fabrizia Stregapede, Alessandra Tessa, et al.
Journal of Clinical Medicine|July 17, 2020
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care UnitRobert Śmigiel, Mateusz Biela, Krzysztof Szmyd, et al.
Journal of Medical Genetics|March 3, 2018
Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic featuresAnna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, et al.
American Journal of Human Genetics|February 13, 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like EncephalomyopathyDorota Piekutowska-Abramczuk, Zahra Assouline, Lavinija Mataković, et al.
Epilepsia|December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathyBenedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
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