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Allergy
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September 26, 2018
Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients
Minnie Jacob, Duaa Bin Khalaf, Safa Alhissi, et al.
Journal of Clinical Immunology
|
September 30, 2025
Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity
Huda Alajlan, Amer Al-Mazrou, Hibah Alruwaili, et al.
Human Mutation
|
June 14, 2012
Molecular characterization of Joubert syndrome in Saudi Arabia
Anas M Alazami, Muneera J Alshammari, Mustafa A Salih, et al.
Human Mutation
|
August 7, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
Anas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, et al.
Journal of Clinical Immunology
|
August 28, 2020
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
Amal H Aljohani, Hamoud Al-Mousa, Rand Arnaout, et al.
Human Genetics
|
February 20, 2019
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, et al.
Journal of Clinical Immunology
|
July 26, 2017
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, et al.
Journal of Medical Genetics
|
October 12, 2012
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, et al.
Frontiers in Immunology
|
May 11, 2026
Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center
Bothainah Alaqeel, Faiz Aljohani, Nora Alrumayan, et al.
BMC Neurology
|
October 30, 2012
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
Mohammed Zein Seidahmed, Mustafa A Salih, Omer B Abdulbasit, et al.
Page
of 7
Search research articles
Search
Showing results (31-40 of 66) with videos related to
Sort By:
Page
of 7
Allergy
|
September 26, 2018
Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients
Minnie Jacob, Duaa Bin Khalaf, Safa Alhissi, et al.
Journal of Clinical Immunology
|
September 30, 2025
Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity
Huda Alajlan, Amer Al-Mazrou, Hibah Alruwaili, et al.
Human Mutation
|
June 14, 2012
Molecular characterization of Joubert syndrome in Saudi Arabia
Anas M Alazami, Muneera J Alshammari, Mustafa A Salih, et al.
Human Mutation
|
August 7, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
Anas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, et al.
Journal of Clinical Immunology
|
August 28, 2020
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
Amal H Aljohani, Hamoud Al-Mousa, Rand Arnaout, et al.
Human Genetics
|
February 20, 2019
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Ranad Shaheen, Monika Tasak, Sateesh Maddirevula, et al.
Journal of Clinical Immunology
|
July 26, 2017
Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review
Farrukh Sheikh, Abbas Hawwari, Safa Alhissi, et al.
Journal of Medical Genetics
|
October 12, 2012
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
Ranad Shaheen, Anas M Alazami, Muneera J Alshammari, et al.
Frontiers in Immunology
|
May 11, 2026
Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center
Bothainah Alaqeel, Faiz Aljohani, Nora Alrumayan, et al.
BMC Neurology
|
October 30, 2012
A novel syndrome of lethal familial hyperekplexia associated with brain malformation
Mohammed Zein Seidahmed, Mustafa A Salih, Omer B Abdulbasit, et al.
Page
of 7