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
Further phenotypic delineation of Alazami syndrome
Al‐Hinai, Abdulhamid, Al‐Hashmi, Samiya, Ganesh, Anuradha, Al‐Hashmi, Nadia, Al‐Saegh, Abeer, Al‐Mamari, Watfa, Al‐Murshedi, Fathiya, Al‐Thihli, Khalid, Al‐Kindi, Adila, Al‐Maawali, Almundher
Published in American journal of medical genetics. Part A (01.08.2022)
Published in American journal of medical genetics. Part A (01.08.2022)
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Journal Article
Coexistence of autism spectrum disorders among three children with tuberous sclerosis complex : case reports and review of literature
al-Futaisi, Aminah, al-Sayigh, Abir, al-Muammari, Watfah Said, Idris, Ahmad
Published in Sultan Qaboos University medical journal (01.11.2016)
Published in Sultan Qaboos University medical journal (01.11.2016)
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Journal Article
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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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
Perception about telemedicine services among parents of children with neurodevelopmental disorders in a specialised tertiary centre in Oman
B Idris, Ahmed, Al-Mamari, Watfa, Al Humaidi, Taif Saud, Al Ma'ashri, Kawther Abdullah, Alhabsi, Ahmed, Jalees, Saquib, Gaber, Ahlam, Al-Jabri, Muna, Islam, M Mazharul, Al-Futaisi, Amna
Published in Global public health (31.12.2024)
Published in Global public health (31.12.2024)
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Journal Article
Revisiting the prevalence of autism spectrum disorder among Omani children : a multicentre study
Idris, Ahmad Babakir, Daqqaq, Samar, al-Islam, M. Mazhar, Jalis, Thaqib, al-Hatimiah, Mawzah, al-Najjari, Muhammad A., al-Hinai, Fatimah I., al-Muammariyah, Watfah, al-Harthiah, Zuwainah, al-Shakili, Muna, al-Numaniah, Asia M.
Published in Sultan Qaboos University medical journal (01.11.2019)
Published in Sultan Qaboos University medical journal (01.11.2019)
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Journal Article
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family
Al-Amri, Ahmed, Saegh, Abeer Al, Al-Mamari, Watfa, El-Asrag, Mohammed E., Ivorra, Jose L., Cardno, Alastair G., Inglehearn, Chris F., Clapcote, Steven J., Ali, Manir
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Journal Article
Learning disabilities : opportunities and challenges in Oman
al-Mihrizi, Abd al-Hamid, al-Muammariyah, Watfah, al-Futaisi, Amnah
Published in Sultan Qaboos University medical journal (01.05.2016)
Published in Sultan Qaboos University medical journal (01.05.2016)
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Journal Article
A Turning Point for Paediatric Developmental Services in Oman: Establishment of a national autism screening programme
Al-Mamari, Watfa, Idris, Ahmed B, Al-Jabri, Muna, Abdelsattar, Ahlam, Al-Hinai, Fatma, Al-Hatmi, Moza, Al-Raidan, Amira
Published in Sultan Qaboos University medical journal (01.02.2017)
Published in Sultan Qaboos University medical journal (01.02.2017)
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Journal Article
Incidence and risk factors of parenteral nutrition-associated cholestasis in Omani neonates : single centre experience
Khan, Ashfaq A., al-Rayyami, Hilal, Rayyis, Zunidah S., al-Zakwani, Ibrahim, al-Numani, Khalid, al-Sananiyah, Siham, Sharif, Sharif W., al-Muammariyah, Watfah
Published in Sultan Qaboos University medical journal (01.05.2015)
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Published in Sultan Qaboos University medical journal (01.05.2015)
Journal Article
Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations
Idris, Ahmed B., Al-Mamari, Watfa, Abdulrahim, Reem, Alsayegh, Abeer
Published in Research in autism spectrum disorders (01.05.2022)
Published in Research in autism spectrum disorders (01.05.2022)
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Journal Article
Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report
Al-Mamari, Watfa, Idris, Ahmed B., Fadlallah, Najat, Jalees, Saquib, Al-Jabri, Muna, Al-Maawali, Al-Mundher, Alsayegh, Abeer
Published in Research in autism spectrum disorders (01.07.2024)
Published in Research in autism spectrum disorders (01.07.2024)
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Journal Article
A SWOT analysis of parent-mediated intervention for children with autism spectrum disorder: Oman as a Regional Model
Idris, Ahmed B., Abdulrahim, Reem, Al-Mamari, Watfa, Shih, Andy, Kantaris, Marios
Published in International journal of developmental disabilities (03.09.2022)
Published in International journal of developmental disabilities (03.09.2022)
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Journal Article
Care for Child Development in Sultanate of Oman: Paving the road for children to develop on track
Al-Mamari, Watfa, Idris, Ahmed B, Al-Alawi, Kamila, Rashid, Najma, Al-Araimi, Fannah Al Fannah, Siddeeg, Khalid
Published in Sultan Qaboos University medical journal (22.02.2023)
Published in Sultan Qaboos University medical journal (22.02.2023)
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Journal Article
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population
Al-Mamari, Watfa, Al-Saegh, Abeer, Al-Kindy, Adila, Bruwer, Zandre, Al-Murshedi, Fathiya, Al-Thihli, Khalid
Published in Journal of autism and developmental disorders (01.08.2015)
Published in Journal of autism and developmental disorders (01.08.2015)
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