Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome

por Al Riyami, Mohamed S., Al Ghaithi, Badria, Al Hashmi, Nadia, Al Kalbani, Naifain
Publicado 2015

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability

por Al-Hashmi, Nadia, Mohammed, Mohammed, Al-Kathir, Salim, Al-Yarubi, Naeema, Scott, Patrick
Publicado 2018

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

por Al-Hassnan, Zuhair, Al Hashmi, Nadia, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Al Teneiji, Amal
Publicado 2023

Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination

por Al Shidhani, Azza, Al Hinai, Abdulhamid, Al Thihli, Khalid, Al Mandhari, Hilal, Al Yaarubi, Saif, Ullah, Irfan, Al-Hashmi, Nadia, Al Murshedi, Fathiya
Publicado 2023

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

por 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
Publicado 2023

Genetic analysis and outcomes of Omani children with steroid‐resistant nephrotic syndrome

por Al Riyami, Mohamed S., Al Alawi, Intisar, Al Gaithi, Badria, Al Maskari, Anisa, Al Kalbani, Naifain, Al Hashmi, Nadia, Al Balushi, Aisha, Al Shahi, Maryam, Al Saidi, Suliman, Al Bimani, Muna, Al Hatali, Fahad, Mabillard, Holly, Sayer, John A.
Publicado 2023

Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period

por Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid
Publicado 2022

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

por Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Publicado 2021