Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Amal Alhashem

Showing results (1-10 of 93) with videos related to

Pageof 10
Sort By:
Saudi Medical Journal|January 5, 2021
Proteus syndrome caused by novel somatic AKT1 duplicationTalal AlAnzi, Eman Al-Mashharawi, Amal Alhashem
Pediatric Neurology|November 17, 2018
Embryopathy Associated With a Vitamin TherapyBrahim Tabarki, Amal AlHashem, Kalthoum Tlili-Graiess
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 28, 2016
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrumKhaled Hundallah, Asma'a Alenizi, Amal AlHashem, et al.
Cureus|May 27, 2024
Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal CaseTalal AlAnzi, Sarar Mohamed, Amal AlHashem, et al.
Human Mutation|November 29, 2013
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IXNouran Adly, Amal Alhashem, Amer Ammari, et al.
American Journal of Medical Genetics. Part A|September 19, 2020
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypesDalia Abualsaud, Mais Hashem, Amal AlHashem, et al.
Journal of Pediatric Genetics|October 21, 2022
De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi ArabiaAmal Alhashem, Saria Alazmeh, Ayla Barakat, et al.
JAAD Case Reports|January 15, 2024
Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstructionHind Alshihry, Shahad D AlGhamdy, Amal Alhashem, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?Wafaa Sewairi, Abdulrahman Assiri, Nisha Patel, et al.
Human Genetics|August 29, 2016
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizuresBrahim Tabarki, Nabil AlMajhad, Amal AlHashem, et al.
Pageof 10

Showing results (1-10 of 93) with videos related to

Sort By:
Pageof 10
Saudi Medical Journal|January 5, 2021
Proteus syndrome caused by novel somatic AKT1 duplicationTalal AlAnzi, Eman Al-Mashharawi, Amal Alhashem
Pediatric Neurology|November 17, 2018
Embryopathy Associated With a Vitamin TherapyBrahim Tabarki, Amal AlHashem, Kalthoum Tlili-Graiess
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 28, 2016
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrumKhaled Hundallah, Asma'a Alenizi, Amal AlHashem, et al.
Cureus|May 27, 2024
Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal CaseTalal AlAnzi, Sarar Mohamed, Amal AlHashem, et al.
Human Mutation|November 29, 2013
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IXNouran Adly, Amal Alhashem, Amer Ammari, et al.
American Journal of Medical Genetics. Part A|September 19, 2020
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypesDalia Abualsaud, Mais Hashem, Amal AlHashem, et al.
Journal of Pediatric Genetics|October 21, 2022
De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi ArabiaAmal Alhashem, Saria Alazmeh, Ayla Barakat, et al.
JAAD Case Reports|January 15, 2024
Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstructionHind Alshihry, Shahad D AlGhamdy, Amal Alhashem, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?Wafaa Sewairi, Abdulrahman Assiri, Nisha Patel, et al.
Human Genetics|August 29, 2016
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizuresBrahim Tabarki, Nabil AlMajhad, Amal AlHashem, et al.
Pageof 10