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Eissa Faqeih

Showing results (11-20 of 88) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2016
Increasing the sensitivity of clinical exome sequencing through improved filtration strategyHanan E Shamseldin, Sateesh Maddirevula, Eissa Faqeih, et al.
American Journal of Human Genetics|January 8, 2013
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomalyJawahir Y Mohamed, Eissa Faqeih, Abdulmonem Alsiddiky, 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.
American Journal of Human Genetics|December 29, 2015
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyHanan E Shamseldin, Eissa Faqeih, Ali Alasmari, et al.
Human Genetics|May 14, 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndromeLama AlAbdi, Teresa Neuhann, Eva-Christina Prott, et al.
Human Mutation|April 5, 2011
A TCTN2 mutation defines a novel Meckel Gruber syndrome locusRanad Shaheen, Eissa Faqeih, Mohammed Z Seidahmed, et al.
Journal of Medical Genetics|March 10, 2015
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18BAnas M Alazami, Amal Y Kentab, Eissa Faqeih, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humansRanad Shaheen, Mohammed Al-Owain, Eissa Faqeih, et al.
The Journal of Pediatrics|February 14, 2012
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short statureMohammed S Al-Dosari, Muneera Al-Shammari, Ranad Shaheen, et al.
American Journal of Medical Genetics. Part A|February 19, 2020
Further delineation of METTL23-associated intellectual disabilityMohammed Almannai, Osama Obaid, Eissa Faqeih, et al.
Pageof 9

Showing results (11-20 of 88) with videos related to

Sort By:
Pageof 9
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2016
Increasing the sensitivity of clinical exome sequencing through improved filtration strategyHanan E Shamseldin, Sateesh Maddirevula, Eissa Faqeih, et al.
American Journal of Human Genetics|January 8, 2013
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomalyJawahir Y Mohamed, Eissa Faqeih, Abdulmonem Alsiddiky, 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.
American Journal of Human Genetics|December 29, 2015
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyHanan E Shamseldin, Eissa Faqeih, Ali Alasmari, et al.
Human Genetics|May 14, 2024
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndromeLama AlAbdi, Teresa Neuhann, Eva-Christina Prott, et al.
Human Mutation|April 5, 2011
A TCTN2 mutation defines a novel Meckel Gruber syndrome locusRanad Shaheen, Eissa Faqeih, Mohammed Z Seidahmed, et al.
Journal of Medical Genetics|March 10, 2015
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18BAnas M Alazami, Amal Y Kentab, Eissa Faqeih, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humansRanad Shaheen, Mohammed Al-Owain, Eissa Faqeih, et al.
The Journal of Pediatrics|February 14, 2012
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short statureMohammed S Al-Dosari, Muneera Al-Shammari, Ranad Shaheen, et al.
American Journal of Medical Genetics. Part A|February 19, 2020
Further delineation of METTL23-associated intellectual disabilityMohammed Almannai, Osama Obaid, Eissa Faqeih, et al.
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