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Eissa Faqeih

Showing results (31-40 of 88) with videos related to

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Frontiers in Medicine|August 20, 2024
CffDNA screening for Niemann-pick disease, type C1: a case seriesSydney A Lau, Romy I Fawaz, Robert Rigobello, 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.
American Journal of Medical Genetics. Part A|January 26, 2016
Crisponi/CISS1 syndrome: A case seriesAmal M Alhashem, Muhammad Ali Majeed-Saidan, Amer N Ammari, et al.
JIMD Reports|November 15, 2024
The phenotypic spectrum of <i>PTCD3</i> deficiencyBaiba Lace, Eissa Faqeih, Namik Kaya, et al.
Brain : a Journal of Neurology|October 21, 2017
A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorderHanan E Shamseldin, Ali Alasmari, Mohammed A Salih, et al.
Journal of Medical Genetics|October 12, 2012
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutationRanad Shaheen, Anas M Alazami, Muneera J Alshammari, et al.
Frontiers in Genetics|January 29, 2026
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohortAfaf Alsagheir, Ali Mcrabi, Meshari Alquayt, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|December 31, 2005
Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Mohamed S Rashed, Herman J Ten Brink, et al.
Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.
BMC Pediatrics|June 15, 2019
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trialMarwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, et al.
Pageof 9

Showing results (31-40 of 88) with videos related to

Sort By:
Pageof 9
Frontiers in Medicine|August 20, 2024
CffDNA screening for Niemann-pick disease, type C1: a case seriesSydney A Lau, Romy I Fawaz, Robert Rigobello, 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.
American Journal of Medical Genetics. Part A|January 26, 2016
Crisponi/CISS1 syndrome: A case seriesAmal M Alhashem, Muhammad Ali Majeed-Saidan, Amer N Ammari, et al.
JIMD Reports|November 15, 2024
The phenotypic spectrum of <i>PTCD3</i> deficiencyBaiba Lace, Eissa Faqeih, Namik Kaya, et al.
Brain : a Journal of Neurology|October 21, 2017
A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorderHanan E Shamseldin, Ali Alasmari, Mohammed A Salih, et al.
Journal of Medical Genetics|October 12, 2012
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutationRanad Shaheen, Anas M Alazami, Muneera J Alshammari, et al.
Frontiers in Genetics|January 29, 2026
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohortAfaf Alsagheir, Ali Mcrabi, Meshari Alquayt, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|December 31, 2005
Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometryOsama Y Al-Dirbashi, Mohamed S Rashed, Herman J Ten Brink, et al.
Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.
BMC Pediatrics|June 15, 2019
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trialMarwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, et al.
Pageof 9