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Bader Alhaddad

Showing results (1-10 of 61) with videos related to

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Frontiers in Pediatrics|January 28, 2026
Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and <i>ALDH4A1</i> gene variant in a consanguineous familyFaisal O AlQurashi, Bashayer S Alawam, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|May 4, 2018
Severe ichthyosis in MPDU1-CDGChristian Thiel, Saskia Wortmann, Korbinian Riedhammer, et al.
Neurology. Genetics|August 18, 2020
<i>LINS1</i>-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrumChristiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt, et al.
Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous <i>De Novo</i> 7-bp Frameshift Deletion in <i>PBX1</i> by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|May 11, 2017
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limbMuhammad Umair, Khadim Shah, Bader Alhaddad, et al.
Frontiers in Genetics|October 6, 2023
Prospect of genetic disorders in Saudi ArabiaAmerh S Alqahtani, Raniah S Alotibi, Taghrid Aloraini, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndromeSaud Alsahli, Stefan T Arold, Ahmed Alfares, et al.
Frontiers in Genetics|November 29, 2023
Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associationsMariam M Al Eissa, Raniah S Alotibi, Bader Alhaddad, et al.
Clinical Genetics|April 5, 2019
Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limbMuhammad Umair, Muhammad Bilal, Raja H Ali, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Pageof 7

Showing results (1-10 of 61) with videos related to

Sort By:
Pageof 7
Frontiers in Pediatrics|January 28, 2026
Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and <i>ALDH4A1</i> gene variant in a consanguineous familyFaisal O AlQurashi, Bashayer S Alawam, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|May 4, 2018
Severe ichthyosis in MPDU1-CDGChristian Thiel, Saskia Wortmann, Korbinian Riedhammer, et al.
Neurology. Genetics|August 18, 2020
<i>LINS1</i>-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrumChristiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt, et al.
Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous <i>De Novo</i> 7-bp Frameshift Deletion in <i>PBX1</i> by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.
European Journal of Human Genetics : EJHG|May 11, 2017
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limbMuhammad Umair, Khadim Shah, Bader Alhaddad, et al.
Frontiers in Genetics|October 6, 2023
Prospect of genetic disorders in Saudi ArabiaAmerh S Alqahtani, Raniah S Alotibi, Taghrid Aloraini, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndromeSaud Alsahli, Stefan T Arold, Ahmed Alfares, et al.
Frontiers in Genetics|November 29, 2023
Reclassifying variations of unknown significance in diseases affecting Saudi Arabia's population reveal new associationsMariam M Al Eissa, Raniah S Alotibi, Bader Alhaddad, et al.
Clinical Genetics|April 5, 2019
Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limbMuhammad Umair, Muhammad Bilal, Raja H Ali, et al.
Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.
Pageof 7