Publications by authors named "Abdullah Y Alfaifi"

2Publications

The morbid genome of ciliopathies: an update.

Authors:
Hanan E Shamseldin Ranad Shaheen Nour Ewida Dalal K Bubshait Hisham Alkuraya Elham Almardawi Ali Howaidi Yasser Sabr Ebtesam M Abdalla Abdullah Y Alfaifi Jameel Mohammed Alghamdi Afaf Alsagheir Ahmed Alfares Heba Morsy Maged H Hussein Mohammad A Al-Muhaizea Mohammad Shagrani Essam Al Sabban Mustafa A Salih Neama Meriki Rubina Khan Maisoon Almugbel Alya Qari Maha Tulba Mohammed Mahnashi Khalid Alhazmi Abrar K Alsalamah Sawsan R Nowilaty Amal Alhashem Mais Hashem Firdous Abdulwahab Niema Ibrahim Tarfa Alshidi Eman AlObeid Mona M Alenazi Hamad Alzaidan Zuhair Rahbeeni Mohammed Al-Owain Sameera Sogaty Mohammed Zain Seidahmed Fowzan S Alkuraya

Genet Med 2020 Jun 14;22(6):1051-1060. Epub 2020 Feb 14.

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

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June 2020

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Authors:
David T Burns Sandra Donkervoort Juliane S Müller Ellen Knierim Diana Bharucha-Goebel Eissa Ali Faqeih Stephanie K Bell Abdullah Y AlFaifi Dorota Monies Francisca Millan Kyle Retterer Sarah Dyack Sara MacKay Susanne Morales-Gonzalez Michele Giunta Benjamin Munro Gavin Hudson Mena Scavina Laura Baker Tara C Massini Monkol Lek Ying Hu Daniel Ezzo Fowzan S AlKuraya Peter B Kang Helen Griffin A Reghan Foley Markus Schuelke Rita Horvath Carsten G Bönnemann

Am J Hum Genet 2018 05;102(5):858-873

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

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May 2018