Search Results - "Watfa Al-Mamari"

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits by 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

“…Recently, with the advancement in next generation sequencing (NGS) along with the improvement of bioinformatics tools, whole exome sequencing (WES) has become…”
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Further phenotypic delineation of Alazami syndrome by 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

“…Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual…”
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Comorbidity of Learning Disorders and Attention Deficit Hyperactivity Disorder in a Sample of Omani Schoolchildren by Al-Mamari , Watfa S, Al-Futaisi , Amna M, Emam , Mahmoud M, Kazem , Ali M

“…الهدف : تقدر معدلات انتشار اضطرابات التعلم في مختلف أنحاء العالم بحوالي % 2-10 لدى تلاميذ المدارس. و تتسم اضطرابات التعلم بسمات سريرية متباينة كما ترتبط…”
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Coexistence of autism spectrum disorders among three children with tuberous sclerosis complex : case reports and review of literature by al-Futaisi, Aminah, al-Sayigh, Abir, al-Muammari, Watfah Said, Idris, Ahmad

“…Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder inherited in an autosomal dominant manner and characterised by benign tumours in the…”
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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder by 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.

“…Covalent tRNA modifications play multi-faceted roles in tRNA stability, folding, and recognition, as well as the rate and fidelity of translation, and other…”
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De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism by Al-Kindy , Adila, Al-Mamari , Watfa, Udayakumar , Achandira M, Al-Sayegh , Abeer

“…The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report…”
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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families by 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

“…In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway…”
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The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families by 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

“…Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized…”
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Perception about telemedicine services among parents of children with neurodevelopmental disorders in a specialised tertiary centre in Oman by 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

“…While telemedicine has shown promise for diagnosis and treatment, its integration into specialised clinics and mainstream healthcare is slow. A study at Sultan…”
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Revisiting the prevalence of autism spectrum disorder among Omani children : a multicentre study by 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.

“…Objectives: This study aimed to provide an updated estimate of the prevalence of autism spectrum disorder (ASD) among Omani children. Methods: This…”
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Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family by 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

“…Intellectual disability (ID) is the term used to describe a diverse group of neurological conditions with congenital or juvenile onset, characterized by an IQ…”
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Learning disabilities : opportunities and challenges in Oman by al-Mihrizi, Abd al-Hamid, al-Muammariyah, Watfah, al-Futaisi, Amnah

“…Furthermore, the frequent co-existence of two or more LDs within the same individual makes the picture even more complex; in the USA, 30% of students with a…”
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A Turning Point for Paediatric Developmental Services in Oman: Establishment of a national autism screening programme by Al-Mamari, Watfa, Idris, Ahmed B, Al-Jabri, Muna, Abdelsattar, Ahlam, Al-Hinai, Fatma, Al-Hatmi, Moza, Al-Raidan, Amira

“…Sir, Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterised by impaired social communication and interaction and restricted repetitive…”
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Incidence and risk factors of parenteral nutrition-associated cholestasis in Omani neonates : single centre experience by Khan, Ashfaq A., al-Rayyami, Hilal, Rayyis, Zunidah S., al-Zakwani, Ibrahim, al-Numani, Khalid, al-Sananiyah, Siham, Sharif, Sharif W., al-Muammariyah, Watfah

“…Parenteral nutrition-associated cholestasis (PNAC) is one of the most challenging complications of prolonged parenteral nutrition (PN) in neonates. There is a…”
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Understanding discrepancy in autism epidemiology in view of underpinning genetic architecture: Lessons learnt from studies in consanguineous populations by Idris, Ahmed B., Al-Mamari, Watfa, Abdulrahim, Reem, Alsayegh, Abeer

“…This short commentary aims to shed light on the discrepancy in the epidemiological findings and underlying genetic architecture of Autism Spectrum Disorder…”
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Clinical and neurobehavioral phenotype in children with autism and intragenic copy number duplications in CNTN4: Case series report by Al-Mamari, Watfa, Idris, Ahmed B., Fadlallah, Najat, Jalees, Saquib, Al-Jabri, Muna, Al-Maawali, Al-Mundher, Alsayegh, Abeer

“…Copy Number Variation (CNV) of contactin genes (CNTNs) - CNTN3, CNTN4, CNTN5, and CNTN6 - have been associated with various neurodevelopmental disorders,…”
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Consanguinity: The innocent culprit in autism severity by Al-Mamari, Watfa, Idris, Ahmed B, Fadlallah, Najat, Jalees, Saquib, Al-Jabri, Muna, Al-Shehhi, Halima, Mohammed, Maha, Alsayegh, Abeer

“…Objective: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with genetic and environmental factors. Although consanguinity is a common practice…”
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A SWOT analysis of parent-mediated intervention for children with autism spectrum disorder: Oman as a Regional Model by Idris, Ahmed B., Abdulrahim, Reem, Al-Mamari, Watfa, Shih, Andy, Kantaris, Marios

“…The prevalence of autism in the Arabian Gulf region is on the rise leading to overstretching of the pre-existing intervention services. The World Health…”
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Care for Child Development in Sultanate of Oman: Paving the road for children to develop on track by Al-Mamari, Watfa, Idris, Ahmed B, Al-Alawi, Kamila, Rashid, Najma, Al-Araimi, Fannah Al Fannah, Siddeeg, Khalid

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Enhancing Child Development in Oman: Applying global agenda into local context by Al-Mamari, Watfa, Idris, Ahmed B, Al-Alawi, Kamila, Rashid, Najma, Al-Araimi, Fannah Al Fannah, Siddeeg, Khalid

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