未登录 分享 收藏
Germline mosaicism in TCF20-associated neurodevelopmental disorders: a case study and literature review TCF20相关神经发育障碍中的生殖细胞系嵌合现象：一个病例研究及文献综述 Poquerusse, Jessie; Whitford, Whitney; Taylor, Juliet; Gregersen, Nerine; Love, Donald R.; Tsang, Bobby; Drake, Kylie M.; Snell, Russell G.; Lehnert, Klaus; Jacobsen, Jessie C. 分享 收藏
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar Mohammed, Idris; Haris, Basma; Al-Barazenji, Tara; Vasudeva, Dhanya; Tomei, Sara; Al Azwani, Iman; Dauleh, Hajar; Shehzad, Saira; Chirayath, Shiga; Mohamadsalih, Ghassan; Petrovski, Goran; Khalifa, Amel; Love, Donald R.; Al-Shafai, Mashael; Hussain, Khalid 分享 收藏
Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study Theadom, Alice; Rodrigues, Miriam; Ranta, Annemarei; Poke, Gemma; Love, Donald; Jones, Kelly; Te Ao, Braden; Hammond-Tooke, Graeme; Parmar, Priya; O'Grady, Gina; Roxburgh, Richard 分享 收藏
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes Guennoun, Andrea; Bougarn, Salim; Khan, Taushif; Mackeh, Rafah; Rahman, Mahbuba; Al-Ali, Fatima; Ata, Manar; Aamer, Waleed; Prosser, Debra; Habib, Tanwir; Chin-Smith, Evonne; Al-Darwish, Khawla; Zhang, Qian; Al-Shakaki, Alya; Robay, Amal; Crystal, Ronald G.; Fakhro, Khalid; Al-Naimi, Amal; Al Maslamani, Eman; Tuffaha, Amjad; Janahi, Ibrahim; Janahi, Mohammad; Love, Donald R.; Karim, Mohammed Yousuf; Lo, Bernice; Hassan, Amel; Adeli, Mehdi; Marr, Nico 分享 收藏
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M.; Ruzhnikov, Maura R. Z.; Fallot, Camille; Smol, Thomas; Rama, Melanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenjar, Alexandra; Courtin, Thomas; Heide, Solveig; Font-Montgomery, Esperanza; Heid, Caleb; Hamm, J. Austin; Love, Donald R.; Thabet, Farouq; Misra, Vinod K.; Cunningham, Mitch; Leal, Suzanne M.; Jarvela, Irma; Normand, Elizabeth A.; Zou, Fanggeng; Helal, Mayada; Keren, Boris; Torti, Erin; Chung, Wendy K.; Schrauwen, Isabelle 分享 收藏
Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants Winbo, Annika; Earle, Nikki; Marcondes, Luciana; Crawford, Jackie; Prosser, Debra O.; Love, Donald R.; Merriman, Tony R.; Cadzow, Murray; Stiles, Rachael; Donoghue, Tom; Stiles, Martin K.; Hayes, Ian; Skinner, Jonathan R. 分享 收藏
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M.; Papatheodorou, Stathis; Miles, Chris; Ware, James S.; Papadakis, Michael; Tadros, Rafik; Cole, Della; Skinner, Jonathan R.; Crawford, Jackie; Love, Donald R.; Pua, Chee J.; Soh, Bee Y.; Bhalshankar, Jaydutt D.; Govind, Risha; Tfelt-Hansen, Jacob; Winkel, Bo G.; van der Werf, Christian; Wijeyeratne, Yanushi D.; Mellor, Greg; Till, Janice; Cohen, Marta; Tome-Esteban, Maria; Sharma, Sanjay; Wilde, Arthur A. M.; Cook, Stuart A.; Sheppard, Mary N.; Bezzina, Connie R.; Behr, Elijah R. 分享 收藏
Development of a cardiac inherited disease service and clinical registry: A 15-year perspective Earle, Nikki J.; Crawford, Jackie; Hayes, Ian; Rees, Mark I.; French, John; Stiles, Martin K.; Waddell-Smith, Kathryn E.; Donoghue, Tom; Monkley, Rachael; Neas, Katherine; Aitken, Andrew; Tse, Rexson; Love, Donald R.; Skinner, Jonathan R. 分享 收藏
分享 收藏
A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders Theadom, Alice; Rodrigues, Miriam B.; Poke, Gemma; O'Grady, Gina; Love, Donald; Hammond-Tooke, Graeme; Parmar, Priya; Baker, Ronelle; Feigin, Valery; Jones, Kelly; Ao, Braden Te; Ranta, Anna; Roxburgh, Richard; Krishnamurthi, Rita; Stewart, Jenny 分享 收藏
分享 收藏
EGFR Mutation Testing of non-squamous NSCLC: Impact and Uptake during Implementation of Testing Guidelines in a Population-Based Registry Cohort from Northern New Zealand McKeage, Mark; Elwood, Mark; Tin, Sandar Tin; Khwaounjoo, Prashannata; Aye, Phyu; Li, Angie; Sheath, Karen; Shepherd, Phillip; Laking, George; Kingston, Nicola; Lewis, Christopher; Love, Donald 分享 收藏
A Prospective Study of Sudden Cardiac Death among Children and Young Adults Bagnall, R. D.; Weintraub, R. G.; Ingles, J.; Duflou, J.; Yeates, L.; Lam, L.; Davis, A. M.; Thompson, T.; Connell, V.; Wallace, J.; Naylor, C.; Crawford, J.; Love, D. R.; Hallam, L.; White, J.; Lawrence, C.; Lynch, M.; Morgan, N.; James, P.; du Sart, D.; Puranik, R.; Langlois, N.; Vohra, J.; Winship, I.; Atherton, J.; McGaughran, J.; Skinner, J. R.; Semsarian, C. 分享 收藏
Genetic markers of repolarization and arrhythmic events after acute coronary syndromes Earle, N. J.; Poppe, K. K.; Pilbrow, A. P.; Cameron, V. A.; Troughton, R. W.; Skinner, J. R.; Love, D. R.; Shelling, A. N.; Whalley, G. A.; Ellis, C. J.; Richards, A. M.; Doughty, R. N. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Developmental delay referrals and the roles of Fragile X testing and molecular karyotyping: A New Zealand perspective Doherty, Elaine; O'Connor, Rachel; Zhang, Anna; Lim, Christina; Love, Jennifer M.; Ashton, Fern; Claxton, Karen; Gregersen, Nerine; George, Alice M.; Love, Donald R. 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
