학술논문
'학술논문'
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1~10
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Hartley, Taila; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Élisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Hartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin; Care4Rare Canada Consortium
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy
Academic Journal
Academic Journal
Alazami, Anas; Al-Qattan, Sarah; Faqeih, Eissa; Alhashem, Amal; Alshammari, Muneera; Alzahrani, Fatema; Al-Dosari, Mohammed; Patel, Nisha; Alsagheir, Afaf; Binabbas, Bassam; Alzaidan, Hamad; Alsiddiky, Abdulmonem; Alharbi, Nasser; Alfadhel, Majid; Kentab, Amal; Daza, Riza; Kircher, Martin; Shendure, Jay; Hashem, Mais; Alshahrani, Saif
Academic Journal
Abdulwahab, Firdous; Abouelhoda, Mohamed; Abouthuraya, Rula; Imam, Abumansour; Ahmed, Syed O.; Al Rubeaan, Khalid; Al Tassan, Nada; AlAbdulaziz, Basma; AlAbdulrahman, Khalid; Alamer, F. H.; Alazami, Anas; Al-Baik, Lina A.; Aldahmesh, Mohammed; Al-Dhekri, Hasan; AlDusery, Haya; Algazlan, Sulaiman; Al-Ghonaium, Abdulaziz; Alhamed, Mohammed; Alhashem, Amal; Alhissi, Safa Ahmed; AlIssa, Abdulelah; Aljurf, Mahmoud D.; Alkuraya, Fowzan S.; Alkuraya, Hisham; Allam, Rabab; Almasharawi, Imam J.; Almoisheer, Agaadir; AlMostafa, Abeer; Al-Mousa, Hamoud; Al-Muhsen, Saleh; Almutairy, Eid A.; Alnader, Noukha; AlNaqeb, Dhekra; AlOtaibi, A. B.; Alotibi, Afaf; Al-Qattan, Sarah; Al-Saud, Bandar; Al-Saud, Haya; Alshammari, M.; Alsheikh, Hadeel; Aisheikh, Abdulmoneem H.; Al-Sulaiman, Ayman; Altamimi, A. S.; Al-Tayeb, Hamsa; Alwadaee, S. M.; Al-Younes, B.; Alzahrani, Fatima; Anazi, Shamsa; Arnaout, Rand; Fahad, Bashiri; Yousef, Binamer; Binhumaid, F. S.; Boholega, Saeed; Broering, Dieter; Burdelski, Martin; Dasouki, Mahed Jamil; Dzimiri, Nduna Francis; Elamin, Tanziel; El-Kalioby, Mohamed; Elsiesy, Hussien; Faqeih, Eissa; Faquih, Tariq; Hagos, Samya; Hagr, Abdulrahman A.; Hashem, Mais; Hawwari, Abbas; Hazzaa, Selwa; Ibrahim, Niema; Imtiaz, Faiqa; Jabr, Amal; Kattan, Rana; Kaya, Namik; Kentab, Amal; Khalil, Dania; Khan, Arif O.; Khier, Omnia; Meyer, Brian; Mohamed, Jawahir; Monies, Dorota; Muiya, Paul N.; Murad, Hatem; Naim, E. A.; Owaidah, Tarek; Patel, Nisha; Ramzan, Khushnooda; Salih, Musafa A.; Shagrani, Mohammad; Shaheen, Ranad; Shamseldin, Hanan; Sameera, Sogaty; Sameera, Subhani; Shazia, Taibah; Khalid, Wakil; Salma, M.; Saudi Mendeliome Grp
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[AR] Al-Qattan, Sarah
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