학술논문
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Academic Journal
Lyu, Hang; Boßelmann, Christian M.; Johannesen, Katrine M.; Koko, Mahmoud; Ortigoza-Escobar, Juan Dario; Aguilera-Albesa, Sergio; Garcia-Navas Núñez, Deyanira; Linnankivi, Tarja; Gaily, Eija; van Ruiten, Henriette J.A.; Richardson, Ruth; Betzler, Cornelia; Horvath, Gabriella; Brilstra, Eva; Geerdink, Niels; Orsucci, Daniele; Tessa, Alessandra; Gardella, Elena; Fleszar, Zofia; Schöls, Ludger; Lerche, Holger; Møller, Rikke S.; Liu, Yuanyuan
In eBioMedicine December 2023 98
Academic Journal
Pochiero, Francesca; Mari, Francesco; Ramesh, Venkateswaran; Capra, Valeria; Mancardi, Margherita; Keren, Boris; Mignot, Cyiril; Lulli, Matteo; Parks, Kendall; Griffin, Helen; Brugger, Melanie; Nigro, Vincenzo; Hirata, Yuko; Koichihara, Reiko; Peterlin, Borut; Maki, Ryuto; Nitta, Yohei; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Brown, Matthew A.; Caulfield, Mark J.; Chan, Georgia C.; Giess, Adam; Griffin, John N.; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lakey, Anna; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; Maleady-Crowe, Fiona; McEntagart, Meriel; Minneci, Federico; Mitchell, Jonathan; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Perez-Gil, Daniel; Pereira, Marina B.; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Rogers, Tim; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J.V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo
In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376
Academic Journal
Harris, Elizabeth; Richardson, Ruth; Annavarapu, Srinivas; Tellez, James; Butteriss, David; Hannon, Therese; Splitt, Miranda
In European Journal of Medical Genetics May 2022 65(5)
Academic Journal
Harb, Ziad; Richardson, Ruth; Gadd, Richard; Kerr, Alexander; Clay, William; Mallick, Arijit; Bhargava, Amit; Tiruveedhula, Madhu; Walls, Andrew; O'Flaherty, Maurice; Craig, Julie; Dawson, Daniel; McCaughey, Philip; Crean, Jonathan; Ayyasamy, Brijesh; Prasad, Pradeep; Ansnd, Anoop; Tarar, Yasir; Choo, Xin Yin; Yousufuddin, Shaik; Stone, Andrew; Amer, Mohammed; Haarer, Francesca; Barrow, Tom; Singh, Vishwajeet; Junaid, Sayani; Houssain, Natasha; Dhukaram, Vivek; Elbayyouk, Khalil; Abiddin, Zain ul; Salih, Samir; Fong, Angus; Arora, Abhishek; Louette, Luc; Faria, Giles; Smith, Andrew; Aithal, Shivashanker; Palihawadana, Dhanushka; Pir-Siahbazy, Ramtin; Zubairy, Aamir; Rose, Barry; McCormack, Annie; Vega-Poblete, Maira; Wahed, Karim; Malik, Khalid; Yousaf, Sohail; Sott, Andrea; Evangelidis, Dimosthenis; Hamilton, Paul; Abbott, Sarah; Naraen, Akarshan; Syed, Turab A; Benjamin, Biju; Ferreira, Catarina; Drampalos, Efstathios; Dasari, Kishore Kumar; Galhoum, Ahmed; Marsland, Daniel; Elliot, Robin; Chowdhury, Alex; Tareef, Tareq; Salim, Javed; Mishra, Viren; Amanat, Suheil; Ray, Robbie; Kavarthapu, Venu; Ahluwalia, Raju; Shah, Rohi; Lyle, Shirley; Molloy, Andy; Currall, Verity; Hatzantonis, Catherine; Dixon, Joseph; Goff, Thomas; Eyre, Jason; Kheir, Ehab; Haendlmayer, Kurt; Demoulin, Erin; Ali, Zulfikar; Loughenbury, Faye; Mansoor, Sufyan; Butcher, Alexander; Bonner, Rory; Saha, Anamika; Mcknight, Gareth Ewan; Lokanathan, Prashan; Lees, Rupert; Harrison, Peter; Kelly, Andrew; Macdonald, Hamish; Slade, George; Clayton, Robert; Middleton, Scott; Oag, Erlend; Loveday, David T; Atkinson, Henry; Dalrymple, James; Zaveri, Amit; Jani, Priya; Fernandes, Ramon; Johnson-Lynn, Sarah; Robertson-McPartlin, Lynne; Alderton, Elizabeth; Townshend, Dave; Porter, Anna; McLaughlin, Nicole; Guiguis, John; Kurup, Harish; Vasukutty, Nijil; Wokhlu, Ashim; Ogunsola, Abidemi; Koc, Togay; Hodkinson, Simon; Jowett, Billy; Shamoon, Samer; Mustafa, Qamar; Stoneham, Adam; Duggleby, Luke; Teoh, Kar; Ali, Shahahoor; Islam, Raisa; Butler, Mike; Brennan, Ciaran; Jennison, Toby; Karim, Tariq; Milner, Stephen; Mishra, Arya; Singh, Hemant; Haldar, Anil; Budair, Basil; MacKenzie, James; Dong, Huan; Prem, Hari; Wall, Rosemary; Dawe, Edward; Sexton, Sarah; O'Dowd-Booth, Christopher; Azeez, Sadeeq; Mavromatidou, Galini; Topliss, Claire; Makwana, Nilesh; Dass, Debashis; Abas, Sameera; Cheruvu, Manikandar Srinivas; Devany, Adam; Ieong, Edmund; Rudge, Ben; Kane, Prathamesh; Guha, Abhijit; Suen, Eric Ho Ming; Eldessouky, Amr; Saad, Ahmed Isam; Ali, Ibrahim; Hickey, Benjamin; Pillai, Anand; Islam, Amirul; Akbar, Zeeshan; Naylor, Tom; Khan, Umair; Jowett, Charlie; Mahmoud, Mohamed; Cryer, Gunay; Place, Stuart; Mason, Lyndon W; Malhotra, Karan; Houchen-Wollof, Linzy; Mangwani, Jitendra
In Foot and Ankle Surgery February 2022 28(2):205-216
Academic Journal
Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian; Guerrini, Renzo; Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela
American Journal of Human Genetics. 110(8)
Academic Journal
Lee, Sunwoo; Menzies, Lara; Hay, Eleanor; Ochoa, Eguzkine; Docquier, France; Rodger, Fay; Deshpande, Charu; Foulds, Nicola C; Jacquemont, Sébastien; Jizi, Khadije; Kiep, Henriette; Kraus, Alison; Löhner, Katharina; Morrison, Patrick J; Popp, Bernt; Richardson, Ruth; Haeringen, Arie van; Martin, Ezequiel; Toribio, Ana; Li, Fudong
Human Molecular Genetics; 11/15/2023, Vol. 32 Issue 22, p3123-3134, 12p
Academic Journal
JIMD Reports. November, 2022, Vol. 63 Issue 6, p536, 4 p.
Academic Journal
52 U.C. Davis L. Rev. 2105 (2018-2019) / U.C. Davis Law Review, Vol. 52, Issue 4 (April 2019), pp. 2105-2164
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