학술논문
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'학술논문'
에서 검색결과 371건 | 목록
1~20
Academic Journal
White, Susan M.; Wondergem, Annelotte P.; Breet, Isa; Dittmaier, Maren; Bell, Katrina; Richmond, Christopher M.; Hardikar, Winita; Bhatia, Kanika; Quinlan, Catherine; Orchard, David; D’Souza, Areetha; Chazin, Walter J.; Smith, Christopher; Sparkes, Rebecca; Lam, Simon; Carter, Alexandra; Hopkin, Robert J.; Khendek, Leticia; Sullivan, Bonnie R.; Becher, Naja; Simonsen, Anne Katrine W.; Kvistgaard, Helene; Dempsey, Katherine; Miethke, Alexander G.; Gregersen, Pernille Axél; Phillips, Eliza; Luijsterburg, Martijn S.
European Journal of Human Genetics. :1-12
Academic Journal
Stina Lou; Kathrine Carstensen; Pernille Axel Gregersen; Jens Overgaard; Sandra E Staffieri; Pernille Aakjær Mikkelsen; Peter Skov Jensen; Morten Lyng Høgild; Rasmus Thøger Christensen; Steen Fiil Urbak
BMJ Open, Vol 15, Iss 11 (2025)
Academic Journal
Alanay, Yasemin; Mohnike, Klaus; Nilsson, Ola, 1970; Alves, Inês; AlSayed, Moeenaldeen; Appelman-Dijkstra, Natasha M.; Baujat, Genevieve; Ben-Omran, Tawfeg; Breyer, Sandra; Cormier-Daire, Valerie; Gregersen, Pernille Axél; Guillén-Navarro, Encarna; Högler, Wolfgang; Maghnie, Mohamad; Mukherjee, Swati; Cohen, Shelda; Pimenta, Jeanne; Selicorni, Angelo; Semler, J. Oliver; Sigaudy, Sabine; Popkov, Dmitry; Sabir, Ian; Noval, Susana; Sessa, Marco; Irving, Melita
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Kaliki, Swathi; Vempuluru, Vijitha S.; Fabian, Ido Didi; Abdallah, Elhassan; Abdullahi, Shehu U.; Abdulqader, Rula A.; Abdulrahaman, Aminatu A.; Abouelnaga, Sherif; Ademola-Popoola, Dupe S.; Adio, Adedayo; Afifi, Mahmoud A.; Afshar, Armin R.; Aggarwal, Priyanka; Aghaji, Ada E.; Ahmad, Alia; Akib, Marliyanti N. R.; Akinsete, Adeseye M.; Al Harby, Lamis; Al Mesfer, Saleh A.; Al Ani, Mouroge H.; Portabella, Silvia Alarcón; Al-Badri, Safaa A. F.; Alcasabas, Ana Patricia A.; Al-Dahmash, Saad A.; Alejos, Amanda; Alemany-Rubio, Ernesto; Alfa Bio, Amadou I.; Carreras, Yvania Alfonso; Al-Haddad, Christiane E.; Al-Hussaini, Hamoud H. Y.; Ali, Amany M.; Alia, Donjeta B.; Al-Jadiry, Mazin F.; Al-Jumaly, Usama; Alkatan, Hind M.; All-Eriksson, Charlotta; Al-Mafrachi, Ali A. R. M.; Almeida, Argentino A.; Alsawidi, Khalifa M.; Al-Shaheen, Athar A. S. M.; Al-Shammary, Entissar H.; Amankwaa-Frempong, Doreen; Amiruddin, Primawita O.; Armytasari, Inggar; Astbury, Nicholas J.; Atalay, Hatice T.; Ataseven, Eda; Atchaneeyasakul, La-ongsri; Atsiaya, Rose; Autrata, Rudolf; Balaguer, Julia; Balayeva, Ruhengiz; Barranco, Honorio; Bartoszek, Paulina; Bartuma, Katarina; Bascaran, Covadonga; Bechrakis, Nikolaos E.; Popovic, Maja Beck; Begimkulova, Ainura S.; Benmiloud, Sarra; Berete, Rokia C.; Berry, Jesse L.; Bhaduri, Anirban; Bhat, Sunil; Bhattacharyya, Arpita; Biewald, Eva M.; Binkley, Elaine; Blum, Sharon; Bobrova, Nadia; Boldt, H. Culver; Bonanomi, Maria Teresa B. C.; Bouda, Gabrielle C.; Bouguila, H. di; Brennan, Rachel C.; Brichard, B. nédicte G.; Buaboonnam, Jassada; Budiongo, Aléine; Burton, Matthew; Calderón-Sotelo, Patricia; Calle Jara, Doris A.; Camuglia, Jayne E.; Cano, Miriam R.; Capra, Michael; Caspi, Shani; Cassoux, Nathalie; Castela, Guilherme; Castillo, Luis; Català-Mora, Jaume; Caviedes, Isabel; Chandramohan, Arthika; Chantada, Guillermo L.; Chaudhry, Shabana; Chawla, Bhavna; Chen, Wensi; Chiwanga, Faraja S.; Chuluunbat, Tsengelmaa; Cieslik, Krzysztof; Clark, Antony; Cockcroft, Ruellyn L.; Comsa, Codruta; Correa Llano, Maria G.; Corson, Timothy W.; Couitchere, Line; Cowan-Lyn, Kristin E.; Csóka, Monika; Dangboon, Wantanee; Das, Anirban; Das, Pranab; Das, Sima; Davanzo, Jacquelyn M.; Davidson, Alan; de Francesco, Sonia; de Potter, Patrick; Delgado, Karina Q.; Demirci, Hakan; Desjardins, Laurence; Diaz Coronado, Rosdali Y.; Dimaras, Helen; Dodgshun, Andrew J.; Donato Macedo, Carla R.; Dragomir, Monica D.; du, Yi; du Bruyn, Magritha; du Plessis, Johannes P.; Dudeja, Gagan; Eerme, Katrin; Eka Sutyawan, I. Wayan; el Kettani, Asmaa; Elbahi, Amal M.; Elder, James E.; Elhaddad, Alaa M.; Elhassan, Moawia M. A.; Elzembely, Mahmoud M.; Ericksen, Connor; Essuman, Vera A.; Evina, Ted Grimbert A.; Ezegwui, Ifeoma R.; Fadoo, Zehra; Fandiño, Adriana C.; Faranoush, Mohammad; Fasina, Oluyemi; Fernández, Delia D. P. G.; Fernández-Teijeiro, Ana; Foster, Allen; Frenkel, Shahar; Fu, Ligia D.; Fuentes-Alabi, Soad L.; Garcia, Juan L.; Aldana, David García; Garcia Pacheco, Henry N.; Geel, Jennifer A.; Ghassemi, Fariba; Girón, Ana V.; Goenz, Marco A.; Gold, Aaron S.; Golberg, Hila; Gole, Glen A.; Gomel, Nir; Gonzalez, Efren; Perez, Graciela Gonzalez; González-Rodríguez, Liudmira; Gorfine, Malka; Graells, Jaime; Gregersen, Pernille A.; Grigorovski, Nathalia D. A. K.; Guedenon, Koffi M.; Gunasekera, D. Sanjeeva; Gündüz, Ahmet K.; Gupta, Himika; Gupta, Sanjiv; Gupta, Vineeta; Hadjistilianou, Theodora; Hamel, Patrick; Hamid, Syed A.; Hamzah, Norhafizah; Hansen, Eric D.; Harbour, J. William; Hartnett, M. Elizabeth; Hasanreisoglu, Murat; Hassan, Sadiq; Hassan, Shadab; Hautz, Wojciech; Haydar, Huda A.; Hederova, Stanislava; Hessissen, Laila; Lalaina, Hoby; Hongeng, Suradej; Hordofa, Diriba F.; Hubbard, G. Baker; Hummlen, Marlies; Husakova, Kristina; Hussein Al-Janabi, Allawi N.; Ibanga, Affiong A.; Ida, Russo; Ilic, Vesna R.; Islamov, Ziyavuddin; Jairaj, Vivekaraj; Janjua, Teyyeb A.; Jeeva, Irfan; Ji, Xunda; Jo, Dong Hyun; Jones, Michael M.; Amani Kabesha, Theophile B.; Kabore, Rolande L.; Kalinaki, Abubakar; Kamsang, Pius; Kantar, Mehmet; Kapelushnik, Noa; Kardava, Tamar; Kebudi, Rejin; Keomisy, Jonny; Kepak, Tomas; Ketteler, Petra; Khan, Zohora J.; Khaqan, Hussain A.; Khetan, Vikas; Khodabande, Alireza; Khotenashvili, Zaza; Kim, Jonathan W.; Kim, Jeong Hun; Kiratli, Hayyam; Kivelä, Tero T.; Klett, Artur; Koç, Irem; Kosh Komba Palet, Jess Elio; Krivaitiene, Dalia; Kruger, Mariana; Kulvichit, Kittisak; Kuntorini, Mayasari W.; Kyara, Alice; Lam, Geoffrey C.; Larson, Scott A.; Latinović, Slobodanka; Laurenti, Kelly D.; Lavi, Yotam; Groznik, Alenka Lavric; Leverant, Amy A.; Li, Cairui; Li, Kaijun; Limbu, Ben; Liu, Chun-Hsiu; Long, Quah Boon; López, Juan P.; Lukamba, Robert M.; Luna-Fineman, Sandra; Lutfi, Delfitri; Lysytsia, Lesia; Madgar, Shiran; Magrath, George N.; Mahajan, Amita; Maitra, Puja; Maka, Erika; Makimbetov, Emil K.; Maktabi, Azza M. Y.; Maldonado, Carlos; Mallipatna, Ashwin; Manudhane, Rebecca; Manzhuova, Lyazat; Begue, Nieves Martín; Masud, Sidra; Matende, Ibrahim O.; Mattosinho, Clarissa C. D. S.; Matua, Marchelo; Mayet, Ismail; Mbumba, Freddy B.; McKenzie, John D.; Mehrvar, Azim; Mengesha, Aemero A.; Menon, Vikas; Mercado, Gary John V. D. D.; Mets, Marilyn B.; Midena, Edoardo; Miller, Audra; Mishra, Divyansh K. C.; Mndeme, Furahini G.; Mohamedani, Ahmed A.; Mohammad, Mona T.; Moll, Annette C.; Montero, Margarita M.; Moreira, Claude; Mruthyunjaya, Prithvi; Msina, Mchikirwa S.; Msukwa, Gerald; Mudaliar, Sangeeta S.; Muhammad, Hassan; Muma, Kangwa I.; Munier, Francis L.; Murray, Timothy G.; Musa, Kareem O.; Mushtaq, Asma; Musika, Anne A.; Mustak, Hamzah; Mustapha, Tajudeen; Muyen, Okwen M.; Myezo, Khumo H.; Naidu, Gita; Naidu, Natasha; Nair, Akshay Gopinathan; Natarajan, Sundaram; Naumenko, Larisa; Ndoye Roth, Paule A. da; Nency, Yetty M.; Neroev, Vladimir; Ng, Yvonne; Nikitovic, Marina; Nkanga, Elizabeth D.; Nkumbe, Henry E.; Numbi, Marcel N.; Nummi, Kalle; Nuruddin, Murtuza; Nyaywa, Mutale; Nyirenda, Chinsisi; Obono-Obiang, Ghislaine; Oliver, Scott C. N.; Ooporto, Joaquin; Ortega-Hernández, Miriam; Oscar, Alexander; Ossandon, Diego; Pagarra, Halimah; Paintsil, Vivian; Paiva, Luisa; Palanivelu, Mahesh Shanmugam; Papyan, Ruzanna; Parrozzani, Raffaele; Pascual Morales, Claudia R.; Paton, Katherine E.; Pe'er, Jacob; Calvo, Jesús Peralta; Perić, Sanja; Pham, Chau T. M.; Philbert, Remezo; Plager, David A.; Pochop, Pavel; Polania, Rodrigo A.; Polyakov, Vladimir; Ponce, Jimena; Qadir, Ali O.; Qayyum, Seema; Qian, Jiang; Rahman, Ardizal; Rajkarnikar, Purnima; Ramanjulu, Rajesh; Ramasubramanian, Aparna; Ramirez-Ortiz, Marco A.; Randhawa, Jasmeen K.; Raobela, L. a; Rashid, Riffat; Reddy, M. Ashwin; Renner, Lorna A.; Reynders, David; Ribadu, Dahiru; Ritter-Sovinz, Petra; Rogowska, Anna; Rojanaporn, Duangnate; Romero, Livia; Roy, Soma R.; Saab, Raya H.; Saakyan, Svetlana; Sabhan, Ahmed H.; Sagoo, Mandeep S.; Said, Azza M. A.; Saiju, Rohit; Salas, Beatriz; San Román Pacheco, Sonsoles; Sánchez, Gissela L.; Sanchez Orozco, Alma Janeth; Sayalith, Phayvanh; Scanlan, Trish A.; Schwab, Christoph; Sedaghat, Ahad; Seth, Rachna; Sgroi, Mariana; Shah, Ankoor S.; Shakoor, Shawkat A.; Sharma, Manoj K.; Sherief, Sadik T.; Shields, Carol L.; Sia, David; Noorani Siddiqui, Sorath; Sidi cheikh, Sidi; Silva, S. nia; Singh, Arun D.; Singh, Usha; Singha, Penny; Sitorus, Rita S.; Skalet, Alison H.; Soebagjo, Hendrian D.; Sorochynska, Tetyana; Ssali, Grace; Stacey, Andrew W.; Staffieri, Sandra E.; Stahl, Erin D.; Steinberg, David M.; Stones, David K.; Strahlendorf, Caron; Coleoni Suarez, Maria Estela; Sultana, Sadia; Sun, Xiantao; Superstein, Rosanne; Supriyadi, Eddy; Surukrattanaskul, Supawan; Suzuki, Shigenobu; Svojgr, Karel; Sylla, Fatoumata; Tamamyan, Gevorg; Tan, Deborah; Tandili, Alketa; Tang, Jing; Tarrillo Leiva, Fanny F.; Tashvighi, Maryam; Tateshi, Bekim; Teh, Kok Hoi; Tehuteru, Edi S.; Teixeira, Luiz F.; Pompe, Manca Tekavcic; Thawaba, Abdullah Dahan M.; Theophile, Tuyisabe; Toledano, Helen; Trang, Doan L.; Traoré, Fousseyni; Tripathy, Devjyoti; Tuncer, Samuray; Tyau-Tyau, Harba; Umar, Ali B.; Unal, Emel; Uner, Ogul E.; Urbak, Steen F.; Ushakova, Tatiana L.; Usmanov, Rustam H.; Valeina, Sandra; Valente, Paola; van Hoefen Wijsard, Milo; Vasquez Anchaya, Jacqueline Karina; Vaughan, Leon O.; Veleva-Krasteva, Nevyana V.; Verma, Nishant; Victor, Andi A.; Viksnins, Maris; Villacís Chafla, Edwin G.; Villegas, Victor M.; Vishnevskia-Dai, Victoria; Waddell, Keith; Wali, Amina H.; Wang, Yi-Zhuo; Wangtiraumnuay, Nutsuchar; Wetter, Julie A.; Riono, Widiarti P.; Wilson, Matthew W.; Wime, Amelia D. C.; Wiwatwongwana, Atchareeya; Wiwatwongwana, Damrong; Dod, Charlotte Wolley; Wong, Emily S.; Wongwai, Phanthipha; Wu, Si-qi; Xiang, Daoman; Xiao, Yishuang; Xu, Bing; Xue, Kang; Yaghy, Antonio; Yam, Jason C.; Yang, Huasheng; Yanga, Jenny M.; Yaqub, Muhammad A.; Yarovaya, Vera A.; Yarovoy, Andrey A.; Ye, Huijing; Yee, Roberto I.; Yousef, Yacoub A.; Yuliawati, Putu; López, Arturo M.; Zein, Ekhtelbenina; Zhang, Yi; Zhilyaeva, Katsiaryna; Zia, Nida; Ziko, Othman A. O.; Zondervan, Marcia; Schlüter, Sabrina; Bowman, Richard
Ophthalmology Science. 5(2)
Academic Journal
Michael G Hanna; Andrea Doria; Ingrid E Lundberg; Olivier Benveniste; Britta Maurer; Roel Vermeulen; Hector Chinoy; Marie Holmqvist; Leonid Padyukov; Gilles Salles; Karin E Smedby; Frederick W Miller; Lisa G Rider; Lucy R Wedderburn; Ann M Reed; Alain Monnereau; Pierluigi Cocco; Helga Westerlind; Pedro Machado; Simon Rothwell; Øyvind Molberg; Parveen Bhatti; Harindra Jayasekara; Mark Purdue; Nathaniel Rothman; Qing Lan; Timothy Radstake; Kenneth Offit; Sonja Berndt; Roger Milne; Eleanor Kane; Vidya Limaye; Catherine Zhu; Pernille Mathiesen; Peter Gregersen; Boel De Paepe; Jan L De Bleecker; Adam Schiffenbauer; Immaculata De Vivo; Susan Slager; Albert Selva-O’Callaghan; James McKay; Alexandra Nieters; Delphine Casabonne; Weng Ian Che; Vijai Joseph; Nicola Camp; Lauren Teras; Chris Amos; Lesley Tinker; Zoltán Griger; Anton Öberg Sysojev; Karina Patasova; Lauren Pachman; Jiri Vencovksy; Brenda Birmann; James Cerhan; Brian Link; Claire Vajdic; Alan Arslan; Henrik Halgrim; Paige Bracci
RMD Open, Vol 11, Iss 3 (2025)
Conference
Steffensen, Ellen Hollands; Blechingberg, Jenny; Hansen, Thomas van Overeem; Bolund, Anneli; Robertson, Stephen; Axél Gregersen, Pernille
Steffensen, E H, Blechingberg, J, Hansen, T V O, Bolund, A, Robertson, S & Axél Gregersen , P 2024, 'A previously unreported splice variant in FLNA causing periventricular nodular heterotopia 1 in a Danish family; explored by functional studies', European Journal of Human Genetics, vol. 32, no. Suppl. 2, P11.034.B, pp. 1475-1476.
Steffensen, E H, Blechingberg, J, Hansen, T V O, Bolund, A, Robertson, S & AxélGregersen , P 2024, ' A previously unreported splice variant in FLNA causing periventricular nodular heterotopia 1 in a Danish family; explored by functional studies ', European Journal of Human Genetics, vol. 32, no. Suppl. 2, P11.034.B, pp. 1475-1476 .
Steffensen, E H, Blechingberg, J, Hansen, T V O, Bolund, A, Robertson, S & Axél
Academic Journal
Lorans, Marie; Skipper, Kristian Alsbjerg; Nielsen, Trine Ostergaard; Drue, Simon Opstrup; Nielsen, Christine Kroer; Thorup, Christian Vinberg; Norholt, Sven Erik; Thostesen, Lisbeth Marianne; Gregersen, Pernille Axel
Academic Journal
Lildballe, Dorte L. ; Frederiksen, Anja Lisbeth ; Schönewolf-Greulich, Bitten ; Brasch-Andersen, Charlotte ; Lautrup, Charlotte Kvist ; Karstensen, Helena Gásdal ; Pedersen, Inge Søkilde ; Sunde, Lone ; Risom, Lotte ; Rasmussen, Maria ; Bertelsen, Mette ; Andersen, Mette Klarskov ; Rendtorff, Nanna Dahl ; Gregersen, Pernille Axél ; Tørring, Pernille M. ; Hammer-Hansen, Sophia ; Boonen, Susanne E. ; Lindquist, Suzanne Granhøj ; Hammer, Trine Bjørg ; Diness, Birgitte R.
In European Journal of Medical Genetics December 2023 66(12)
Academic Journal
Morten Reiffenstein Huno; Trine Østergaard Nielsen; Michel Bach Hellfritzsch; Sara Markholt; Michael Davidsen; Stine Maria Lund Andersen; Sia Mariann Kjeldsen; Thomas Krusenstjerna-Hafstrøm; Stephen P. Robertson; Pernille Axél Gregersen
Rare, Vol 3, Iss , Pp 100087- (2025)
Academic Journal
Bayat, Allan ; Grimes, Hannah ; de Boer, Elke ; Herlin, Morten Krogh ; Dahl, Rebekka Staal ; Lund, Ida Charlotte Bay ; Bayat, Michael ; Bolund, Anneli Clea Skjelmose ; Gjerulfsen, Cathrine Elisabeth ; Gregersen, Pernille Axél ; Zilmer, Monica ; Juhl, Stefan ; Cebula, Katarzyna ; Rahikkala, Elisa ; Maystadt, Isabelle ; Peron, Angela ; Vignoli, Aglaia ; Alfano, Rosa Maria ; Stanzial, Franco ; Benedicenti, Francesco ; Currò, Aurora ; Luk, Ho-Ming ; Jouret, Guillaume ; Zurita, Ella ; Heuft, Lara ; Schnabel, Franziska ; Busche, Andreas ; Veenstra-Knol, Hermine Elisabeth ; Tkemaladze, Tinatin ; Vrielynck, Pascal ; Lederer, Damien ; Platzer, Konrad ; Ockeloen, Charlotte Wilhelmina ; Goel, Himanshu ; Low, Karen Jaqueline
In Genetics in Medicine August 2024 26(8)
Academic Journal
Herlin, Laura Krogh ; Herlin, Morten Krogh ; Blechingberg, Jenny ; Rønholt, Kirsten ; Graversen, Lise ; Schmidt, Sigrun A.J. ; Jørgensen, Mette Warming ; Hellfritzsch, Michel Bach ; Hald, Jannie Dahl ; Beck-Nielsen, Signe Sparre ; Gjørup, Hans ; Andersen, Brian Nauheimer ; Gregersen, Pernille Axél ; Sommerlund, Mette
In European Journal of Medical Genetics June 2024 69
Academic Journal
van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W E
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine, 24, 8, pp. 1753-1760
van der Sluijs, P J, Joosten, M, Alby, C, Attié-Bitach, T, Gilmore, K, Dubourg, C, Fradin, M, Wang, T, Kurtz-Nelson, E C, Ahlers, K P, Arts, P, Barnett, C P, Ashfaq, M, Baban, A, van den Born, M, Borrie, S, Busa, T, Byrne, A, Carriero, M, Cesario, C, Chong, K, Cueto-González, A M, Dempsey, J C, Diderich, K E M, Doherty, D, Farholt, S, Gerkes, E H, Gorokhova, S, Govaerts, L C P,Gregersen , P A, Hickey, S E, Lefebvre, M, Mari, F, Martinovic, J, Northrup, H, O'Leary, M, Parbhoo, K, Patrier, S, Popp, B, Santos-Simarro, F, Stoltenburg, C, Thauvin-Robinet, C, Thompson, E, Vulto-van Silfhout, A T, Zahir, F R, Scott, H S, Earl, R K, Eichler, E E, Vora, N L, Wilnai, Y, Giordano, J L, Wapner, R J, Rosenfeld, J A, Haak, M C & Santen, G W E 2022, 'Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760. https://doi.org/10.1016/j.gim.2022.04.010
Consejería de Sanidad de la Comunidad de Madrid
Genetics in Medicine, 24, 8, pp. 1753-1760
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