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Fatema AlZahrani

Showing results (1-10 of 33) with videos related to

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European Journal of Human Genetics : EJHG|October 2, 2019
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesisTalal Alanzi, Amal Alhashem, Khalid Dagriri, et al.
Human Genetics|February 10, 2015
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndromeFatema Alzahrani, Selwa A Al Hazzaa, Hamsa Tayeb, et al.
Stem Cell Research|January 9, 2021
Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R geneMaryam Alowaysi, Veronica Astro, Elisabetta Fiacco, et al.
Annals of Neurology|January 24, 2018
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twinFuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasiaAnas M Alazami, Mohammed Zain Seidahmed, Fatema Alzahrani, et al.
Gene|July 1, 2023
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsyAnum Shafique, Tipu Sultan, Fatema Alzahrani, et al.
Clinical Genetics|March 5, 2022
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesisMohamed H Al-Hamed, Norah Altuwaijri, Nada Alsahan, et al.
American Journal of Human Genetics|September 8, 2009
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndromeAnas M Alazami, Ranad Shaheen, Fatema Alzahrani, et al.
Human Mutation|June 14, 2012
Molecular characterization of Joubert syndrome in Saudi ArabiaAnas M Alazami, Muneera J Alshammari, Mustafa A Salih, et al.
Genome Medicine|October 14, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohortHanan E Shamseldin, Lama AlAbdi, Sateesh Maddirevula, et al.
Pageof 4

Showing results (1-10 of 33) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|October 2, 2019
A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesisTalal Alanzi, Amal Alhashem, Khalid Dagriri, et al.
Human Genetics|February 10, 2015
LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndromeFatema Alzahrani, Selwa A Al Hazzaa, Hamsa Tayeb, et al.
Stem Cell Research|January 9, 2021
Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R geneMaryam Alowaysi, Veronica Astro, Elisabetta Fiacco, et al.
Annals of Neurology|January 24, 2018
A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twinFuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasiaAnas M Alazami, Mohammed Zain Seidahmed, Fatema Alzahrani, et al.
Gene|July 1, 2023
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsyAnum Shafique, Tipu Sultan, Fatema Alzahrani, et al.
Clinical Genetics|March 5, 2022
A null founder variant in NPNT, encoding nephronectin, causes autosomal recessive renal agenesisMohamed H Al-Hamed, Norah Altuwaijri, Nada Alsahan, et al.
American Journal of Human Genetics|September 8, 2009
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndromeAnas M Alazami, Ranad Shaheen, Fatema Alzahrani, et al.
Human Mutation|June 14, 2012
Molecular characterization of Joubert syndrome in Saudi ArabiaAnas M Alazami, Muneera J Alshammari, Mustafa A Salih, et al.
Genome Medicine|October 14, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohortHanan E Shamseldin, Lama AlAbdi, Sateesh Maddirevula, et al.
Pageof 4