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Bader Alhaddad

Showing results (11-20 of 61) with videos related to

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Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Pediatric Research|July 1, 2017
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3Muhammad Umair, Bader Alhaddad, Afzal Rafique, et al.
Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.
American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
Deutsches Arzteblatt International|May 7, 2019
Exome Sequencing in ChildrenElisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, et al.
Pageof 7

Showing results (11-20 of 61) with videos related to

Sort By:
Pageof 7
Metabolic Brain Disease|January 19, 2016
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumKatharina Danhauser, Tobias B Haack, Bader Alhaddad, et al.
Neuropediatrics|September 16, 2017
Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related EpilepsyMatias Wagner, Mirjana Gusic, Roman Günthner, et al.
Pediatric Research|July 1, 2017
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3Muhammad Umair, Bader Alhaddad, Afzal Rafique, et al.
Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Journal of Genetics|January 12, 2018
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genesMuhammad Umair, Heide Seidel, Ishtiaq Ahmed, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalitiesDiran Herebian, Bader Alhaddad, Annette Seibt, et al.
JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.
American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
Deutsches Arzteblatt International|May 7, 2019
Exome Sequencing in ChildrenElisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, et al.
Pageof 7