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Shams Anazi

Showing results (1-10 of 13) with videos related to

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American Journal of Medical Genetics. Part A|December 23, 2017
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11Frederike L Harms, Sheela Nampoothiri, Shams Anazi, et al.
Journal of Medical Genetics|February 14, 2015
A novel APC mutation defines a second locus for Cenani-Lenz syndromeNisha Patel, Eissa Faqeih, Shams Anazi, et al.
Human Genetics|April 24, 2016
A null mutation in TNIK defines a novel locus for intellectual disabilityShams Anazi, Hanan E Shamseldin, Dhekra AlNaqeb, et al.
Human Genome Variation|April 16, 2016
The many faces of KIF7Duna Barakeh, Eissa Faqeih, Shams Anazi, et al.
American Journal of Medical Genetics. Part A|January 11, 2016
Novel copy number variants and major limb reduction malformation: Report of three casesHanan E Shamseldin, Shams Anazi, Salma M Wakil, et al.
Human Molecular Genetics|February 4, 2014
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeMohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, et al.
American Journal of Human Genetics|March 29, 2016
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and MiceRanad Shaheen, Shams Anazi, Tawfeg Ben-Omran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
GWAS signals revisited using human knockoutsSateesh Maddirevula, Fatema AlZahrani, Shams Anazi, et al.
Brain : a Journal of Neurology|June 6, 2018
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain developmentMichael S Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|December 23, 2017
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11Frederike L Harms, Sheela Nampoothiri, Shams Anazi, et al.
Journal of Medical Genetics|February 14, 2015
A novel APC mutation defines a second locus for Cenani-Lenz syndromeNisha Patel, Eissa Faqeih, Shams Anazi, et al.
Human Genetics|April 24, 2016
A null mutation in TNIK defines a novel locus for intellectual disabilityShams Anazi, Hanan E Shamseldin, Dhekra AlNaqeb, et al.
Human Genome Variation|April 16, 2016
The many faces of KIF7Duna Barakeh, Eissa Faqeih, Shams Anazi, et al.
American Journal of Medical Genetics. Part A|January 11, 2016
Novel copy number variants and major limb reduction malformation: Report of three casesHanan E Shamseldin, Shams Anazi, Salma M Wakil, et al.
Human Molecular Genetics|February 4, 2014
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeMohammed A Aldahmesh, Yuanyuan Li, Amal Alhashem, et al.
American Journal of Human Genetics|March 29, 2016
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and MiceRanad Shaheen, Shams Anazi, Tawfeg Ben-Omran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
GWAS signals revisited using human knockoutsSateesh Maddirevula, Fatema AlZahrani, Shams Anazi, et al.
Brain : a Journal of Neurology|June 6, 2018
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain developmentMichael S Nahorski, Sateesh Maddirevula, Ryosuke Ishimura, et al.
Human Genetics|September 24, 2017
Expanding the genetic heterogeneity of intellectual disabilityShams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, et al.
Pageof 2