Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Khalid Al Thihli

Showing results (21-30 of 63) with videos related to

Pageof 7
Sort By:
Pediatric Neurology|September 9, 2023
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the LiteratureFatema Al-Amrani, Almundher Al-Maawali, Khalid Al-Thihli, et al.
Case Reports in Medicine|October 6, 2025
A Heterozygous Variant in <i>HABP2</i> Causing Increased Risk of Arterial and Venous Thrombosis in a Young Male: Diagnostic and Therapeutic ChallengesSalim Al-Busaidi, Nasiba Al-Maqrashi, Khalid Al-Thihli, et al.
Journal of Child Neurology|March 14, 2013
Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 childrenRoshan Koul, Saif Al-Yarubi, Hussein Al-Kindy, et al.
Human Heredity|July 26, 2014
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional studyKhalid Al-Thihli, Fathiya Al-Murshedi, Nadia Al-Hashmi, et al.
Journal of Central Nervous System Disease|March 14, 2020
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial DiseasesFatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicismLaura Pilozzi-Edmonds, Thomas A Maher, Raveen K Basran, et al.
Oman Medical Journal|July 9, 2025
Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress SyndromeAyat Sulayiam Al-Hinai, Almundher Al-Maawali, Adila Al-Kindi, et al.
American Journal of Medical Genetics. Part A|May 11, 2019
Phenotypic spectrum of ALPK3-related cardiomyopathyKhalfan Al Senaidi, Niranjan Joshi, Maryam Al-Nabhani, et al.
Gene|February 17, 2012
A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathyKhalid Al-Thihli, Hatim Ebrahim, Derralynn A Hughes, et al.
JIMD Reports|July 8, 2024
A founder mutation in <i>CA5A</i> causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiencyKhalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, et al.
Pageof 7

Showing results (21-30 of 63) with videos related to

Sort By:
Pageof 7
Pediatric Neurology|September 9, 2023
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the LiteratureFatema Al-Amrani, Almundher Al-Maawali, Khalid Al-Thihli, et al.
Case Reports in Medicine|October 6, 2025
A Heterozygous Variant in <i>HABP2</i> Causing Increased Risk of Arterial and Venous Thrombosis in a Young Male: Diagnostic and Therapeutic ChallengesSalim Al-Busaidi, Nasiba Al-Maqrashi, Khalid Al-Thihli, et al.
Journal of Child Neurology|March 14, 2013
Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 childrenRoshan Koul, Saif Al-Yarubi, Hussein Al-Kindy, et al.
Human Heredity|July 26, 2014
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional studyKhalid Al-Thihli, Fathiya Al-Murshedi, Nadia Al-Hashmi, et al.
Journal of Central Nervous System Disease|March 14, 2020
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial DiseasesFatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicismLaura Pilozzi-Edmonds, Thomas A Maher, Raveen K Basran, et al.
Oman Medical Journal|July 9, 2025
Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress SyndromeAyat Sulayiam Al-Hinai, Almundher Al-Maawali, Adila Al-Kindi, et al.
American Journal of Medical Genetics. Part A|May 11, 2019
Phenotypic spectrum of ALPK3-related cardiomyopathyKhalfan Al Senaidi, Niranjan Joshi, Maryam Al-Nabhani, et al.
Gene|February 17, 2012
A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathyKhalid Al-Thihli, Hatim Ebrahim, Derralynn A Hughes, et al.
JIMD Reports|July 8, 2024
A founder mutation in <i>CA5A</i> causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiencyKhalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, et al.
Pageof 7