Publications by authors named "Randa Bassiouni"

6Publications

Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.

Authors:
Muhammad I Naseer Mahmood Rasool Angham A Abdulkareem Randa I Bassiouni Hussein Algahtani Adeel G Chaudhary Mohammad H Al-Qahtani

Neurosciences (Riyadh) 2018 Oct;23(4):347-350

Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia. E-mail:

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October 2018

Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.

Authors:
Ibtessam R Hussein Rima S Bader Adeel G Chaudhary Randa Bassiouni Maha Alquaiti Fai Ashgan Hans-Juergen Schulten Mohammad H Al Qahtani

Pediatr Cardiol 2018 Jun 14;39(5):924-940. Epub 2018 Mar 14.

Centre of Excellence in Genomic Medicine Research (CEGMR), King Fahd Medical Research Centre, King Abdulaziz University, Jeddah, 21589, Kingdom of Saudi Arabia.

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June 2018

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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August 2017

Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.

Authors:
Adeel G Chaudhary Ibtessam R Hussein Adel Abuzenadah Mamdouh Gari Randa Bassiouni Samira Sogaty Sahira Lary Maha Al-Quaiti Mohammed Al Balwi Mohammed Al Qahtani

Pediatr Neurol 2014 Apr 4;50(4):368-76. Epub 2013 Dec 4.

Faculty of Medical Sciences, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.

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April 2014

Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.

Authors:
Khalda Amr Ahmed Katoury Mohamed Abdel-Hamid Randa Bassiouni Mona Ibrahim Ekram Fateen

Genet Test Mol Biomarkers 2009 Dec;13(6):761-4

Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt.

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December 2009

Sensitivity of DCSR3/GAPDH ratio using quantitative real-time PCR in the rapid prenatal diagnosis for down syndrome.

Authors:
Sanaa M H Helmy Somaya Ismail Randa Bassiouni Khaled R Gaber

Fetal Diagn Ther 2009 8;25(2):220-3. Epub 2009 May 8.

Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genomic Research Division, National Research Centre, Cairo, Egypt.

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November 2009