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Journal of Inherited Metabolic Disease
|
January 9, 2013
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis
Khalid Al-Thihli, Graham Sinclair, Sandra Sirrs, et al.
Sultan Qaboos University Medical Journal
|
December 13, 2023
Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant
Samira Al Housni, Khalid Al-Thihli, Dafalla Rahmatalla, et al.
Ophthalmic Genetics
|
July 15, 2021
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Mohammed A Rafei, Beena Harikrishna, Khalid Al Thihli, et al.
JIMD Reports
|
July 8, 2024
Transient response to high-dose niacin therapy in a patient with NAXE deficiency
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2008
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype
Khalid Al-Thihli, Teresa Rudkin, Nancy Carson, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2024
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
Fatema Al-Amrani, Jos P N Ruiter, Mirjam Doolaard, et al.
Oman Journal of Ophthalmology
|
February 22, 2019
Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization
Mohamed Al-Abri, Ahmed Al-Hinai, Sana Al Zuhaibi, et al.
Ophthalmic Genetics
|
May 17, 2017
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, et al.
Journal of Autism and Developmental Disorders
|
February 24, 2015
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
Watfa Al-Mamari, Abeer Al-Saegh, Adila Al-Kindy, et al.
Nature Clinical Practice. Gastroenterology & Hepatology
|
February 5, 2009
A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis
Khalid Al-Thihli, Laura Palma, Victoria Marcus, et al.
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Search research articles
Search
Showing results (11-20 of 63) with videos related to
Sort By:
Page
of 7
Journal of Inherited Metabolic Disease
|
January 9, 2013
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis
Khalid Al-Thihli, Graham Sinclair, Sandra Sirrs, et al.
Sultan Qaboos University Medical Journal
|
December 13, 2023
Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant
Samira Al Housni, Khalid Al-Thihli, Dafalla Rahmatalla, et al.
Ophthalmic Genetics
|
July 15, 2021
Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Mohammed A Rafei, Beena Harikrishna, Khalid Al Thihli, et al.
JIMD Reports
|
July 8, 2024
Transient response to high-dose niacin therapy in a patient with NAXE deficiency
Fatema Al-Amrani, Khalid Al-Thihli, Eiman Al-Ajmi, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2008
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype
Khalid Al-Thihli, Teresa Rudkin, Nancy Carson, et al.
American Journal of Medical Genetics. Part A
|
October 3, 2024
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
Fatema Al-Amrani, Jos P N Ruiter, Mirjam Doolaard, et al.
Oman Journal of Ophthalmology
|
February 22, 2019
Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization
Mohamed Al-Abri, Ahmed Al-Hinai, Sana Al Zuhaibi, et al.
Ophthalmic Genetics
|
May 17, 2017
Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, et al.
Journal of Autism and Developmental Disorders
|
February 24, 2015
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
Watfa Al-Mamari, Abeer Al-Saegh, Adila Al-Kindy, et al.
Nature Clinical Practice. Gastroenterology & Hepatology
|
February 5, 2009
A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis
Khalid Al-Thihli, Laura Palma, Victoria Marcus, et al.
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of 7