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Journal of Medical Genetics
|
April 27, 2013
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
Anas M Alazami, Hadia Hijazi, Mohammed S Al-Dosari, et al.
American Journal of Human Genetics
|
November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
Hanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
Nature Genetics
|
February 10, 2026
Building genomic medicine in Saudi Arabia
Ahmed Alfares, Faiqa Imtiaz, Sateesh Maddirevula, et al.
Frontiers in Immunology
|
October 13, 2025
Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in <i>ZAP70</i> deficiency: a single-center experience
Fai AlQahtani, Azhar Al Shaqaq, Bandar Al-Saud, et al.
Frontiers in Immunology
|
February 27, 2018
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
Anas M Alazami, Maryam Al-Helale, Safa Alhissi, et al.
BMC Neurology
|
July 17, 2016
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Mohammed Zain Seidahmed, Mustafa A Salih, Omer B Abdulbasit, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2016
ADAT3-related intellectual disability: Further delineation of the phenotype
Ayman W El-Hattab, Mohammed A Saleh, Amal Hashem, et al.
Journal of Clinical Immunology
|
June 19, 2024
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
Huda Alajlan, Vlad-Stefan Raducanu, Yossef Lopez de Los Santos, et al.
Lupus Science & Medicine
|
March 18, 2026
Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort
Sulaiman M Al-Mayouf, Vahid Ziaee, Nasim Movahedi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 19, 2013
The syndrome of deafness-dystonia: clinical and genetic heterogeneity
Maja Kojovic, Isabel Pareés, Tania Lampreia, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 66) with videos related to
Sort By:
Page
of 7
Journal of Medical Genetics
|
April 27, 2013
Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
Anas M Alazami, Hadia Hijazi, Mohammed S Al-Dosari, et al.
American Journal of Human Genetics
|
November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
Hanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
Nature Genetics
|
February 10, 2026
Building genomic medicine in Saudi Arabia
Ahmed Alfares, Faiqa Imtiaz, Sateesh Maddirevula, et al.
Frontiers in Immunology
|
October 13, 2025
Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in <i>ZAP70</i> deficiency: a single-center experience
Fai AlQahtani, Azhar Al Shaqaq, Bandar Al-Saud, et al.
Frontiers in Immunology
|
February 27, 2018
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
Anas M Alazami, Maryam Al-Helale, Safa Alhissi, et al.
BMC Neurology
|
July 17, 2016
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Mohammed Zain Seidahmed, Mustafa A Salih, Omer B Abdulbasit, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2016
ADAT3-related intellectual disability: Further delineation of the phenotype
Ayman W El-Hattab, Mohammed A Saleh, Amal Hashem, et al.
Journal of Clinical Immunology
|
June 19, 2024
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
Huda Alajlan, Vlad-Stefan Raducanu, Yossef Lopez de Los Santos, et al.
Lupus Science & Medicine
|
March 18, 2026
Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort
Sulaiman M Al-Mayouf, Vahid Ziaee, Nasim Movahedi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 19, 2013
The syndrome of deafness-dystonia: clinical and genetic heterogeneity
Maja Kojovic, Isabel Pareés, Tania Lampreia, et al.
Page
of 7