Publications by authors named "Maha Tulbah"

14Publications

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.

Genes (Basel) 2020 Aug 20;11(9). Epub 2020 Aug 20.

Genetics Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

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August 2020

Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.

J Nephrol 2020 Jul 8. Epub 2020 Jul 8.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh, Saudi Arabia.

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July 2020

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

Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.

Clin Kidney J 2016 Dec 1;9(6):807-810. Epub 2016 Jul 1.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle, UK.

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December 2016

Prenatal diagnosis and treatment perspective of fetal hypothyroidism with goiter.

J Coll Physicians Surg Pak 2013 Mar;23(3):216-8

Department of Obstetrics and Gynaecology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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March 2013

Mutation in MPDZ causes severe congenital hydrocephalus.

J Med Genet 2013 Jan;50(1):54-8

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

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January 2013

Spontaneous resolution of chylous ascites following delivery: a case report.

J Med Case Rep 2012 Jul 4;6:187. Epub 2012 Jul 4.

Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Centre, MBC-52, PO Box 3354, Riyadh 11211, Kingdom of Saudi Arabia.

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July 2012

Antenatal embolization of a large placental chorioangioma: a case report.

J Med Case Rep 2012 Jul 3;6:183. Epub 2012 Jul 3.

Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Centre, MBC-52, PO Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia.

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July 2012