Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia
Albuali, Waleed H, AlGhamdi, Amal A, Aldossary, Shaikha J, AlHarbi, Saleh A, Al Majed, Sami I, Alenizi, Ahmed, Al-Qahtani, Mohammad H, Lardhi, Amer A, Al-Turki, Shams A, AlSanea, Abdulaziz S, Bubshait, Dalal K, Kobeisy, Sumayyah A, Herzallah, Noor H, Alqarni, Wejdan A, AlHarbi, Abeer H, Albuali, Hamad W, Aldossary, Bader J, AlQurashi, Faisal O, Yousef, Abdullah A
Published in BMJ open (11.03.2022)
Published in BMJ open (11.03.2022)
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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
Al-Hassnan, Zuhair N., Khalifa, Ola A., Bubshait, Dalal K., Tulbah, Sahar, Alkorashy, Maarab, Alzaidan, Hamad, Alowain, Mohammed, Rahbeeni, Zuhair, Al-Sayed, Moeen
Published in Molecular genetics and metabolism reports (01.06.2018)
Published in Molecular genetics and metabolism reports (01.06.2018)
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Depression in adult patients with biotin responsive basal ganglia disease
Bubshait, Dalal K., Rashid, Asif, Al-Owain, Mohammed A., Sulaiman, Raashda A.
Published in Drug Discoveries & Therapeutics (01.01.2016)
Published in Drug Discoveries & Therapeutics (01.01.2016)
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Clinical description of human bocavirus viremia in children with LRTI, Eastern Province, Saudi Arabia
Bubshait, Dalal K, Albuali, Waleed Hamad, Yousef, Abdullah A, Obeid, Obeid Elteifi, Alkharsah, Khaled R, Hassan, Manal Ismaeel, Vatte, Chittibabu, Alzahrani, Alhusain J, Bukhari, Huda
Published in Annals of thoracic medicine (01.04.2015)
Published in Annals of thoracic medicine (01.04.2015)
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The morbid genome of ciliopathies: an update
Shamseldin, Hanan E, Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K, Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M, Alfaifi, Abdullah Y, Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H, Al-Muhaizea, Mohammad A, Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A, Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K, Nowilaty, Sawsan R, Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M, Alzaidan, Hamad, Rahbeeni, Zuhair, Al-Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
Shamseldin, Hanan E, Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K, Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S
Published in Genome Biology (03.06.2015)
Published in Genome Biology (03.06.2015)
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Journal Article
The morbid genome of ciliopathies: an update
Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Mohammed Alghamdi, Jameel, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al-Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al-Owain, Mohammed, Sogaty, Sameera, Zain Seidahmed, Mohammed, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing
Ammar, Ahmed, Bubshait, Dalal K, Al Ojan, Abdulrazaq, Alshari, Shuroq A, Cyrus, Cyril, Alanazi, Rawan, Al Ghamdi, Mohammed A, Keating, Brendan J, Al-Anazi, Abdulrahman, Al Qahtani, Noorah H, Al-Ali, Amein K
Published in Journal of neurosurgical sciences (09.05.2023)
Published in Journal of neurosurgical sciences (09.05.2023)
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Identification of RPL5 gene variants and the risk of hepatic vein thrombosis in Saudi patients
Hassan, Fathelrahman M, Alsultan, Afnan A, Alzahrani, Faisal, Albuali, Waleed H, Bubshait, Dalal K, Abass, Elfadil M, Elbasheer, Mudathir A, Alkhanbashi, Abdulmohsen A
Published in Saudi medical journal (01.09.2021)
Published in Saudi medical journal (01.09.2021)
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Journal Article
Malignant Infantile Osteopetrosis: A Case Report
Bubshait, Dalal K, Himdy, Ziyad E, Fadaaq, Ola, Alshmas, Hajar I
Published in Curēus (Palo Alto, CA) (21.01.2020)
Published in Curēus (Palo Alto, CA) (21.01.2020)
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Journal Article
The morbid genome of ciliopathies: an update
Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, Amal, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.
Published in Genetics in medicine (01.06.2020)
Published in Genetics in medicine (01.06.2020)
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Journal Article
Aortic calcification in Gaucher disease: a case report
Alsahli, Saud, Bubshait, Dalal K, Rahbeeni, Zuhair A, Alfadhel, Majid
Published in Application of clinical genetics (01.01.2018)
Published in Application of clinical genetics (01.01.2018)
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Journal Article
Use of a Mortality Prediction Model in Children on Mechanical Ventilation: A 5-Year Experience in a Tertiary University Hospital
Albuali, Waleed H, Algamdi, Amal A, Hasan, Elham A, Al-Qahtani, Mohammad H, Yousef, Abdullah A, Al Ghamdi, Mohammad A, Bubshait, Dalal K, Alshahrani, Mohammed S, AlQurashi, Faisal O, Bou Shahmah, Talal A, Awary, Bassam H
Published in Journal of multidisciplinary healthcare (01.01.2020)
Published in Journal of multidisciplinary healthcare (01.01.2020)
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Autozygome and high throughput confirmation of disease genes candidacy
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
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Journal Article
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal K, Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza Maria, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha S, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette
Published in European journal of human genetics : EJHG (01.09.2023)
Published in European journal of human genetics : EJHG (01.09.2023)
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
Rosenhahn, Erik, O’Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowzan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E.I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M.H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E.X., Maroofian, Reza, Platzer, Konrad
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Journal Article
Clinical profile, risk factors and outcomes of pediatric COVID-19: a retrospective cohort multicentre study in Saudi Arabia
Albuali, Waleed H, AlGhamdi, Amal A, Aldossary, Shaikha J, AlHarbi, Saleh A, Al Majed, Sami I, Alenizi, Ahmed, Al-Qahtani, Mohammad H, Lardhi, Amer A, Al-Turki, Shams A, AlSanea, Abdulaziz S, Bubshait, Dalal K, Kobeisy, Sumayyah A, Herzallah, Noor H, Alqarni, Wejdan A, AlHarbi, Abeer H, Albuali, Hamad W, Aldossary, Bader J, AlQurashi, Faisal O, Yousef, Abdullah A
Published in BMJ open (10.03.2022)
Published in BMJ open (10.03.2022)
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Journal Article
Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis
Hassan, Fathelrahman Mahdi, Alsultan, Afnan, Alzehrani, Faisal, Albuali, Waleed, Bubshait, Dalal, Abass, Elfadil, Elbasheer, Mudathir, Alkhanbashi, Abdulmohsen
Published in Medical archives (Sarajevo, Bosnia and Herzegovina) (01.06.2021)
Published in Medical archives (Sarajevo, Bosnia and Herzegovina) (01.06.2021)
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