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Journal articles
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Dystonia in ataxia telangiectasia : a case report with novel mutations.
Zaki-Dizaji, Majid.
Oman Medical Specialty Board.
2020-01
Dystonia in ataxia telangiectasia : a case report with novel mutations.
Journal articles
0
0
Phenotype expression variability in children with GABRB3 heterozygous mutations.
Khair, Abdulhafeez M.
Oman Medical Specialty Board.
2021-03
Phenotype expression variability in children with GABRB3 heterozygous mutations.
Journal articles
0
0
Genetics and pathophysiology of maturity-onset diabetes of the young (MODY) : a review of current trends.
Yahaya, Tajudeen O.
Oman Medical Specialty Board.
2020-05
Genetics and pathophysiology of maturity-onset diabetes of the young (MODY) : a review of current trends.
Journal articles
0
0
Mutation in the PCSK9 gene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its effect on PCSK9 protein structure.
Al-Waili, Khalid.
Oman Medical Specialty Board.
2013-01
Mutation in the PCSK9 gene in Omani Arab subjects with autosomal dominant hypercholesterolemia and its effect on PCSK9 protein structure.
Journal articles
0
0
Acrodermatitis enteropathica : a case report.
Al Naamaniyah, Asma.
Oman Medical Specialty Board.
2020-11
Acrodermatitis enteropathica : a case report.
Theses and Dissertations
0
0
Identification and characterization of mutations in genes implicated in familial hyperchlosterolaemia in Omani families
Al-Zidiyah, Ward Al-Muna Ali Rashid.
Sultan Qaboos University
2013
Identification and characterization of mutations in genes implicated in familial hyperchlosterolaemia in Omani families
Journal articles
0
0
The correlation of cardiac and Hhepatic hemosiderosis as measured by T2*MRI technique with ferritin levels and hemochromatosis gene mutations in Iranian patients with beta thalassemia major.
Soltanpour, Mohammad Soleiman.
Oman Medical Specialty Board.
2018-01
The correlation of cardiac and Hhepatic hemosiderosis as measured by T2*MRI technique with ferritin levels and hemochromatosis gene mutations in Iranian patients with beta thalassemia major.
Journal articles
0
0
Occurrence of optic neuritis and cervical cord schwannoma with Charcot-Marie-tooth Type 4B1disease.
Scott, Patrick.
Oman Medical Specialty Board.
2016-05
Occurrence of optic neuritis and cervical cord schwannoma with Charcot-Marie-tooth Type 4B1disease.
Journal articles
0
0
Thyroid hormone resistance due to a Novel De Novo mutation in thyroid hormone receptor alpha : first case report from the Middle East and North Africa.
Al Shidhaniyah, Azza.
Oman Medical Specialty Board.
2021-01
Thyroid hormone resistance due to a Novel De Novo mutation in thyroid hormone receptor alpha : first case report from the Middle East and North Africa.
Journal articles
0
0
Hereditary paraganglioma in an Omani family.
Pambinezhthu, Fathima.
Oman Medical Specialty Board.
2021-01
Hereditary paraganglioma in an Omani family.
Journal articles
0
0
A novel cystic fibrosis gene mutation C.4242+1G>C in an Omani patient : a case Report.
Al-Balushi, Said.
Oman Medical Specialty Board.
2021-03
A novel cystic fibrosis gene mutation C.4242+1G>C in an Omani patient : a case Report.
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Cystic fibrosis transmembrane conductance…
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Whole exome sequencing
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Al-Balushi, Said.
(1)
Al-Waili, Khalid.
(1)
Al-Zidiyah, Ward Al-Muna Ali Rashid.
(1)
Al Naamaniyah, Asma.
(1)
Al Shidhaniyah, Azza.
(1)
Khair, Abdulhafeez M.
(1)
Pambinezhthu, Fathima.
(1)
Scott, Patrick.
(1)
Soltanpour, Mohammad Soleiman.
(1)
Yahaya, Tajudeen O.
(1)
Zaki-Dizaji, Majid.
(1)
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Oman Medical Specialty Board
(10)
Sultan Qaboos University
(1)
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