Search research articles
Contact Us
Filters
Showing results (11-20 of 70) with videos related to
Page
of 7
Sort By:
American Journal of Medical Genetics. Part A
|
November 28, 2025
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis
Reem M Elshafie, Yeu-Farn Lin, Isabella Pecora, et al.
Orphanet Journal of Rare Diseases
|
September 5, 2023
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants
Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
HGG Advances
|
April 5, 2026
A Homozygous Nonsense Variant in the Oligosaccharyltransferase Complex Gene, RPN1, Causes a Congenital Disorder of Glycosylation
Bobby G Ng, Wenyue Zhang, Jennifer E Neil, et al.
Clinical Genetics
|
May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
Neurology. Genetics
|
May 24, 2024
Tribal Founder <i>EMC1</i> Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of <i>EMC1</i>-Related Disorder
Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, et al.
Nature Medicine
|
March 4, 2026
A genomics health strategy for the Arabian Gulf
Hamad Ali, Barrak Alahmad, Abdullah Alibrahim, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 70) with videos related to
Sort By:
Page
of 7
American Journal of Medical Genetics. Part A
|
November 28, 2025
Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis
Reem M Elshafie, Yeu-Farn Lin, Isabella Pecora, et al.
Orphanet Journal of Rare Diseases
|
September 5, 2023
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants
Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, et al.
American Journal of Medical Genetics. Part A
|
November 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, et al.
HGG Advances
|
April 5, 2026
A Homozygous Nonsense Variant in the Oligosaccharyltransferase Complex Gene, RPN1, Causes a Congenital Disorder of Glycosylation
Bobby G Ng, Wenyue Zhang, Jennifer E Neil, et al.
Clinical Genetics
|
May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
Hasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
Neurology. Genetics
|
May 12, 2021
Biallelic Pathogenic Variants in <i>TNNT3</i> Associated With Congenital Myopathy
Daniel G Calame, Jawid Fatih, Isabella Herman, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2021
Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant
Ahmed K Saad, Dana Marafi, Tadahiro Mitani, et al.
American Journal of Medical Genetics. Part A
|
June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.
Neurology. Genetics
|
May 24, 2024
Tribal Founder <i>EMC1</i> Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of <i>EMC1</i>-Related Disorder
Nada T Alzayed, Abdullah H Alzuabi, Reem A Alqusaimi, et al.
Nature Medicine
|
March 4, 2026
A genomics health strategy for the Arabian Gulf
Hamad Ali, Barrak Alahmad, Abdullah Alibrahim, et al.
Page
of 7