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Fatema Alzahrani

Showing results (1-10 of 40) with videos related to

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American Journal of Medical Genetics. Part A|June 17, 2008
Expanding the "E" in CHARGEAnas M Alazami, Fatema Alzahrani, Fowzan S Alkuraya
American Journal of Medical Genetics. Part A|December 7, 2020
A de novo ATXN2L variant in a child with developmental delay and macrocephalyFatema Alzahrani, Turki H Albatti, Fowzan S Alkuraya
Gene|October 3, 2012
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?Fatema Alzahrani, Muneera J Alshammari, Fowzan S Alkuraya
Neurology|May 7, 2014
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3Anas M Alazami, Fatema Alzahrani, Saeed Bohlega, et al.
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.
Pageof 4

Showing results (1-10 of 40) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|June 17, 2008
Expanding the "E" in CHARGEAnas M Alazami, Fatema Alzahrani, Fowzan S Alkuraya
American Journal of Medical Genetics. Part A|December 7, 2020
A de novo ATXN2L variant in a child with developmental delay and macrocephalyFatema Alzahrani, Turki H Albatti, Fowzan S Alkuraya
Gene|October 3, 2012
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?Fatema Alzahrani, Muneera J Alshammari, Fowzan S Alkuraya
Neurology|May 7, 2014
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3Anas M Alazami, Fatema Alzahrani, Saeed Bohlega, et al.
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.
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