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Khalid Al Thihli

Showing results (31-40 of 63) with videos related to

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Journal of Clinical Research in Pediatric Endocrinology|November 5, 2021
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging CombinationAzza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, et al.
Sultan Qaboos University Medical Journal|September 11, 2015
Rigid Spine Syndrome among Children in OmanRoshan Koul, Dilip Sankhla, Suad Al-Jahdhami, et al.
European Journal of Human Genetics : EJHG|April 29, 2026
SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian PeninsulaBushra Al Shamsi, Momen Al Momen, Farah Al Kindy, et al.
Oman Medical Journal|June 25, 2026
Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case SeriesBushra Al Shamsi, Anuradha Ganesh, Beena Harikrishna, et al.
Journal of Medical Genetics|July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Genes|February 25, 2022
Mucolipidosis Type IV in Omani Families with a Novel <i>MCOLN1</i> Mutation: Search for Evidence of Founder EffectBadriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, et al.
Orphanet Journal of Rare Diseases|November 4, 2023
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf familiesMarwa Al Busaidi, Feda E Mohamed, Eiman Al-Ajmi, et al.
Therapeutics and Clinical Risk Management|April 22, 2016
Guidelines for acute management of hyperammonemia in the Middle East regionMajid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Further phenotypic delineation of Alazami syndromeAbdulhamid Al-Hinai, Samiya Al-Hashmi, Anuradha Ganesh, et al.
Clinical Genetics|August 21, 2018
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefitsMaryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
Journal of Clinical Research in Pediatric Endocrinology|November 5, 2021
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging CombinationAzza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, et al.
Sultan Qaboos University Medical Journal|September 11, 2015
Rigid Spine Syndrome among Children in OmanRoshan Koul, Dilip Sankhla, Suad Al-Jahdhami, et al.
European Journal of Human Genetics : EJHG|April 29, 2026
SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian PeninsulaBushra Al Shamsi, Momen Al Momen, Farah Al Kindy, et al.
Oman Medical Journal|June 25, 2026
Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case SeriesBushra Al Shamsi, Anuradha Ganesh, Beena Harikrishna, et al.
Journal of Medical Genetics|July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.
Genes|February 25, 2022
Mucolipidosis Type IV in Omani Families with a Novel <i>MCOLN1</i> Mutation: Search for Evidence of Founder EffectBadriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, et al.
Orphanet Journal of Rare Diseases|November 4, 2023
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf familiesMarwa Al Busaidi, Feda E Mohamed, Eiman Al-Ajmi, et al.
Therapeutics and Clinical Risk Management|April 22, 2016
Guidelines for acute management of hyperammonemia in the Middle East regionMajid Alfadhel, Fuad Al Mutairi, Nawal Makhseed, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Further phenotypic delineation of Alazami syndromeAbdulhamid Al-Hinai, Samiya Al-Hashmi, Anuradha Ganesh, et al.
Clinical Genetics|August 21, 2018
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefitsMaryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, et al.
Pageof 7