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
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
Biallelic PTRHD1 Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism
Al‐Kasbi, Ghalia, Al‐Saegh, Abeer, Al‐Qassabi, Ahmed, Al‐Jabry, Tariq, Zadjali, Fahad, Al‐Yahyaee, Said, Al‐Maawali, Almundher
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2021)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.11.2021)
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Journal Article
Strengthening evidence to inform health systems: opportunities for the WHO and partners to accelerate progress on non-communicable diseases
Hyder, Adnan A, Rylance, Sarah, Al Saegh, Abeer, Feigin, Valery L, Kataria, Ishu, Laatikainen, Tiina, Lee, Liming, Mahendradhata, Yodi, Marten, Robert, Mikkelsen, Bente, Miranda, J Jaime, Nugent, Rachel, Owolabi, Mayowa, Sullivan, Richard, Virani, Salim S, Reddy, K Srinath, Saegh, Abeer Al, Feigin, Valery, Hyder, Adnan A, Laatikainen, Tiina, Li, Liming, Mahendradhata, Yodi, Jaime Miranda, J, Owolabi, Mayowa, Reddy, Srinath, Sullivan, Richard, Virani, Salim S
Published in BMJ global health (01.11.2023)
Published in BMJ global health (01.11.2023)
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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
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
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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Journal Article
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss
Al-Amri, Ahmed H., Al Saegh, Abeer, Al-Mamari, Watfa, El-Asrag, Mohammed E., Al-Kindi, Mohammed N., Al Khabouri, Mazin, Al Wardy, Nadia, Al Lamki, Khalsa, Gabr, Ahlam, Idris, Ahmed, Inglehearn, Chris F., Clapcote, Steven J., Ali, Manir
Published in European journal of medical genetics (01.12.2019)
Published in European journal of medical genetics (01.12.2019)
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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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