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Bader Alhaddad

Showing results (21-30 of 61) with videos related to

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Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.
Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Parkinsonism & Related Disorders|July 7, 2020
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystoniaMichael Zech, Theresa Brunet, Matej Škorvánek, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
Brain : a Journal of Neurology|December 14, 2020
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophyKorbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Pageof 7

Showing results (21-30 of 61) with videos related to

Sort By:
Pageof 7
Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.
Journal of Medical Genetics|September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large familyBenjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Parkinsonism & Related Disorders|July 7, 2020
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystoniaMichael Zech, Theresa Brunet, Matej Škorvánek, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Oxidative Medicine and Cellular Longevity|August 15, 2017
Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesRené G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
KCNC1-related disorders: new de novo variants expand the phenotypic spectrumJoohyun Park, Mahmoud Koko, Ulrike B S Hedrich, et al.
Brain : a Journal of Neurology|December 14, 2020
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophyKorbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Brain : a Journal of Neurology|December 24, 2016
CAD mutations and uridine-responsive epileptic encephalopathyJohannes Koch, Johannes A Mayr, Bader Alhaddad, et al.
Pageof 7