Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia

Authors: Balobaid, Ameera, Imtiaz, Faiqa, Ramzan, Khushnooda, Afzal, Sibtain, AlSayed, Moeenaldeen

Source: Genetic testing and molecular biomarkers. 27(5):142-148

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184411150.0x000001&indx=1&recIds=ETOCvdc_100184411150.0x000001

Knowledge and attitudes regarding non‐invasive prenatal testing among women in Saudi Arabia

Authors: Bawazeer, Shahad, AlSayed, Moeenaldeen, Kurdi, Wesam, Balobaid, Ameera

Source: Prenatal diagnosis. 41(10):1343-1350

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131516278.0x000001&indx=1&recIds=ETOCvdc_100131516278.0x000001

Autozygome and high throughput confirmation of disease genes candidacy

Authors: Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, Mohammed, Al Muhaizea, Mohammad A., Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I., Balobaid, Ameera, El Khashab, Heba Y., Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, Wesam, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, Mohamed, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, Dorota, Alkuraya, Fowzan S. ^*

Source: In Genetics in Medicine March 2019 21(3):736-742

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Authors: Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen

Source: In Molecular Genetics and Metabolism Reports June 2017 11:17-23

Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia

Authors: Balobaid, Ameera, Qari, Alya, Al-Zaidan, Hamad

Source: In International Journal of Pediatrics and Adolescent Medicine March 2016 3(1):1-6

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Lethal digenic mutations in the K ⁺ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.

Authors: Hasan, Sonia, Balobaid, Ameera, Grottesi, Alessandro, Dabbagh, Omar, Cenciarini, Marta, Rawashdeh, Rifaat, Al-Sagheir, Afaf, Bove, Cecilia, Macchioni, Lara, Pessia, Mauro, Al-Owain, Mohammed, D’Adamo, Maria Cristina

Source: Journal of Neurophysiology; Oct2017, Vol. 118 Issue 4, p2402-2411, 10p, 2 Color Photographs, 1 Diagram, 4 Graphs

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Combined TSC1and LMX1Bmutations in a single patient

Authors: Khalifa, Ola, Al-Sakati, Nadia, Al-Mane, Khalid, Balobaid, Ameera, Al-Hassnan, Zuhair N.

Source: Clinical Dysmorphology; April 2014, Vol. 23 Issue: 2 p47-51, 5p

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