Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits
Al‐Nabhani, Maryam, Al‐Rashdi, Samiya, Al‐Murshedi, Fathiya, Al‐Kindi, Adila, Al‐Thihli, Khalid, Al‐Saegh, Abeer, Al‐Futaisi, Amna, Al‐Mamari, Watfa, Zadjali, Fahad, Al‐Maawali, Almundher
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Journal Article
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Al‐Futaisi, Amna, Ahmad, Faraz, Al‐Kasbi, Ghalia, Al‐Thihli, Khalid, Koul, Roshan, Al‐Maawali, Almundher
Published in Clinical genetics (01.04.2020)
Published in Clinical genetics (01.04.2020)
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Journal Article
Variability of non‐lethal Fowler syndrome phenotype associated with FLVCR2 variants
Al‐Murshedi, Fathiya, Mirza, Hassan, Al‐Saegh, Abeer, Al‐Nabhani, Maryam, Al‐Shabibi, Saud, Baawain, Saleh, Al‐Futaisi, Amna, Al‐Shehhi, Wafaa, Al‐Maawali, Almundher
Published in Clinical genetics (01.11.2020)
Published in Clinical genetics (01.11.2020)
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Journal Article
Transient response to high‐dose niacin therapy in a patient with NAXE deficiency
Al‐Amrani, Fatema, Al‐Thihli, Khalid, Al‐Ajmi, Eiman, Al‐Futaisi, Amna, Al‐Murshedi, Fathiya
Published in JIMD reports (01.07.2024)
Published in JIMD reports (01.07.2024)
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Journal Article
Telemedicine in the era of COVID-19 and beyond : a new horizon
Alsaffar, Hussain, Almamari, Watfa, Al Futaisi, Amna
Published in Sultan Qaboos University medical journal (01.11.2020)
Published in Sultan Qaboos University medical journal (01.11.2020)
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Journal Article
Inappropriate Laughter in a Patient with Hypothalamic Hamartoma
Ahmad , Faraz, Elmanzalawy , Alaa, Al Kalbani , Faris, Al Futaisi , Amna
Published in Sultan Qaboos University medical journal (01.05.2020)
Published in Sultan Qaboos University medical journal (01.05.2020)
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Journal Article
Rituximab in Severe Seronegative Juvenile Myasthenia Gravis: Review of the Literature
Koul, Roshan, MD, Al Futaisi, Amna, MD, Abdwani, Reem, MD
Published in Pediatric neurology (01.09.2012)
Published in Pediatric neurology (01.09.2012)
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Journal Article
Delayed myelopathy in a child following organic phosphate poisoning
Al Amrani, Fatma, Wali, Yasser, Mittal, Alok, Al Futaisi, Amna
Published in BMJ case reports (24.10.2023)
Published in BMJ case reports (24.10.2023)
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Journal Article
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Alazri , Faisal, Al-Thihli , Khalid, Al-Futaisi , Amna, Koul , Roshan
Published in Sultan Qaboos University medical journal (01.11.2013)
Published in Sultan Qaboos University medical journal (01.11.2013)
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Journal Article
Diagnosis and management of infantile epileptic spasms syndrome (IESS) in Gulf Cooperation Council (GCC) countries: Expert consensus statement
Bashiri, Fahad A., Hundallah, Khalid, Al-Baradie, Raidah, Al-Otaibi, Ali, Ismayl, Omar, AlMalik, Mohamed Elhadi, Muthaffar, Osama Y., Futaisi, Amna Al, Kurdi, Daniah, Tawari, Asmaa Al, AlSowat, Daad, Shafi, Shatha AL, Ali, Ayman, AlHajjar, Lynn M., Aldakhil, Abdullah
Published in Seizure (London, England) (01.04.2024)
Published in Seizure (London, England) (01.04.2024)
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Journal Article
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families
Al Busaidi, Marwa, Mohamed, Feda E, Al-Ajmi, Eiman, Al Hashmi, Nadia, Al-Thihli, Khalid, Al Futaisi, Amna, Al Mamari, Watfa, Al-Murshedi, Fathiya, Al-Jasmi, Fatma
Published in Orphanet journal of rare diseases (03.11.2023)
Published in Orphanet journal of rare diseases (03.11.2023)
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Journal Article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher
Published in Scientific reports (07.11.2022)
Published in Scientific reports (07.11.2022)
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Journal Article
Rigid Spine Syndrome among Children in Oman
Al-Futaisi , Amna, Abdelrahim , Rana A, Mani , Renjith, Al-Thihli , Khalid, Koul , Roshan, Sankhla , Dilip, Al-Jahdhami , Suad, Al-Yaarubi , Saif, Al-Kindy , Hussein
Published in Sultan Qaboos University medical journal (01.08.2015)
Published in Sultan Qaboos University medical journal (01.08.2015)
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Journal Article
The Parental and Children Report of the Prevalence of Depressive Symptoms in Children and Adolescents Amid the COVID-19 Pandemic: A Cross-Sectional Study From Oman
Zadjali, Fahad, Al-Futaisi, Amna, Al-Hosni, Amira, Al-Huseini, Salim, Crommelin, Maarten, Mirza, Hassan
Published in International journal of public health (25.08.2022)
Published in International journal of public health (25.08.2022)
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Journal Article