부산대학교 도서관

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 NR; Akinsete, Adeseye; Al Harby, Lamis; Al Mesfer, Saleh; Al Ani, Mouroge H; Alarcón Portabella, Silvia; Al-Badri, Safaa AF; Alcasabas, Ana Patricia A; Al-Dahmash, Saad A; Alejos, Amanda; Alemany-Rubio, Ernesto; Alfa Bio, Amadou I; Alfonso Carreras, Yvania; Al-Haddad, Christiane E; Al-Hussaini, Hamoud HY; Ali, Amany M; Alia, Donjeta B; Al-Jadiry, Mazin F; Al-Jumaily, Usama; Alkatan, Hind M; All-Eriksson, Charlotta; Al-Mafrachi, Ali ARM; Almeida, Argentino A; Alsawidi, Khalifa M; Al-Shaheen, Athar ASM; 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; Beck Popovic, Maja; 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.C.; Bonanomi, Maria Teresa BC; Bouda, Gabrielle C; Bouguila, Hédi; Brennan, Rachel C; Brichard, Bénédicte G; Buaboonnam, Jassada; Budiongo, Aléine; Burton, Matthew J; 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; Cavieres, 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; Quintero D, Karina; Demirci, Hakan; Desjardins, Laurence; Díaz Coronado, Rosdali Y; Dimaras, Helen; Dodgshun, Andrew J; Donato Macedo, Carla R; Dragomir, Monica D; Du, Yi; Du Bruyn, Magritha; Du Plessis, Johannes; Dudeja, Gagan; Eerme, Katrin; Eka Sutyawan, I Wayan; El Kettani, Asmaa; Elbahi, Amal M; Elder, James E; Elhaddad, Alaa M; Elhassan, Moawia MA; 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 DPG; Fernández-Teijeiro, Ana; Foster, Allen; Frenkel, Shahar; Fu, Ligia D; Fuentes-Alabi, Soad L; Garcia, Juan L; García Aldana, David; Garcia Pacheco, Henry N; Geel, Jennifer A; Ghassemi, Fariba; Girón, Ana V; Goenz, Marco A; Gold, Aaron S; Goldberg, Hila; Gole, Glen A; Gomel, Nir; Gonzalez, Efren; Gonzalez Perez, Graciela; González-Rodríguez, Liudmira; Gorfine, Malka; Graells, Jaime; Gregersen, Pernille A; Grigorovski, Nathalia DAK; 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; Muhammad, Hassan; Hassan, Sadiq; Hassan, Shadab; Hautz, Wojciech; Haydar, Huda; Hederova, Stanislava; Hessissen, Laila; Hongeng, Suradej; Hordofa, Diriba F; Hubbard, G. Baker; Hummelen, Marlies; Husakova, Kristina; Hussein Al-Janabi, Allawi N; Ibanga, Affiong; Ida, Russo; Ilic, Vesna R; Islamov, Ziyavuddin; Jairaj, Vivekaraj; Janjua, Teyyeb; Jeeva, Irfan; Ji, Xunda; Jo, Dong Hyun; Jones, Michael M; Kabesha Amani, Theophile B; Kabore, Rolande L; Kaliki, Swathi; 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; Kivela, 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; Lavy, Yotam; Lavric Groznik, Alenka; Leverant, Amy A; Li, Cairui; Li, Kaijun; Limbu, Ben; Liu, Chun-Hsiu; Quah, BoonLong; 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; Maldonado, Carlos; Mallipatna, Ashwin; Manudhane, Rebecca; Manzhuova, Lyazat; Martín-Begue, Nieves; Masud, Sidra; Matende, Ibrahim O; Mattosinho, Clarissa CDS; Matua, Marchelo; Mayet, Ismail; Mbumba, Freddy B; McKenzie, John D; Mehrvar, Azim; Mengesha, Aemero A; Menon, Vikas; Mercado, Gary John V; Mets, Marilyn B; Midena, Edoardo; Miller, Audra; Mishra, Divyansh KC; 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; Muma, Kangwa I M; 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 Aïda; 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 CN; Oporto, Joaquin; Ortega-Hernández, Miriam; Oscar, Alexander H; 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; Peralta Calvo, Jesús; Perić, Sanja; Pham, Chau TM; Philbert, Remezo; Plager, David A; Pochop, Pavel; Polania, Rodrigo A.; Polyakov, Vladimir; Ponce, Jimena; Qadir, Ali O; Qayyum, Seema; Qian, Jiang; Refaeli, David; Rahman, Ardizal; Rajkarnikar, Purnima; Ramanjulu, Rajesh; Ramasubramanian, Aparna; Ramirez-Ortiz, Marco A; Randhawa, Jasmeen K; Randrianarisoa, Hoby Lalaina; Raobela, Léa; Rashid, Riffat; Reddy, M.A.; 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 MA; Saiju, Rohit; Salas, Beatriz; San Román Pacheco, Sonsoles; Sánchez, Gissela L; Sanchez Orozco, Alma Janeth; Sayalith, Phayvanh; Scanlan, Trish A; Schlüter, Sabrina; 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; Siddiqui, Sorath Noorani; Sidi cheikh, Sidi; Silva, Sónia; 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; Suarez, Maria Estela Coleoni; 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; Tekavcic Pompe, Manca; 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; Widiarti, Widiarti; Wilson, Matthew W; Wime, Amelia DC; Wiwatwongwana, Atchareeya; Wiwatwongwana, Damrong; Wolley Dod, Charlotte; 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; Zapata López, Arturo M; Zein, Ekhtelbenina; Zhang, Yi; Zhilyaeva, Katsiaryna; Zia, Nida; Ziko, Othman AO; Zondervan, Marcia; Bowman, Richard

In The Lancet Global Health August 2022 10(8):e1128-e1140

Lildballe DL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Markholt S; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Lyngholm CD; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Hao Q; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Nielsen DG; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.; Svensmark JH; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark.; Gregersen PA; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Centre for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Fabian, Ido Didi; Stacey, Andrew W; Foster, Allen; Kivelä, Tero T; Munier, Francis L; Keren-Froim, Naama; Gomel, Nir; Cassoux, Nathalie; Sagoo, Mandeep S; Reddy, M Ashwin; Harby, Lamis Al; Zondervan, Marcia; Bascaran, Covadonga; Abdallah, Elhassan; Abdullahi, Shehu U; Boubacar, Sahadatou Adamou; Ademola-Popoola, Dupe S; Adio, Adedayo; Aghaji, Ada E; Portabella, Silvia Alarcón; Alfa Bio, Amadou I; Ali, Amany M; Alia, Donjeta B; All-Eriksson, Charlotta; Almeida, Argentino A; Alsawidi, Khalifa M; Antonino, Romanzo; Astbury, Nicholas J; Atsiaya, Rose; Balaguer, Julia; Balwierz, Walentyna; Barranco, Honorio; Popovic, Maja Beck; Benmiloud, Sarra; Guebessi, Nissrine Bennani; Berete, Rokia C; Biddulph, Shelley J; Biewald, Eva M; Blum, Sharon; Bobrova, Nadia; Boehme, Marianna; Bornfeld, Norbert; Bouda, Gabrielle C; Bouguila, Hédi; Boumedane, Amaria; Brichard, Bénédicte G; L, Michael Capra; Castela, Guilherme; Català-Mora, Jaume; Chantada, Guillermo L; Chernodrinska, Violeta S; Chiwanga, Faraja S; Cieslik, Krzysztof; Comsa, Codruta; Correa Llano, Maria G; Csóka, Monika; Da Gama, Isac V; Davidson, Alan; Potter, Patrick De; Desjardins, Laurence; Dragomir, Monica D; Bruyn, Magritha Du; Kettani, Asmaa El; Elbahi, Amal M; Elgalaly, Dina; Elhaddad, Alaa M; Ali Elhassan, Moawia M; Elzembely, Mahmoud M; Essuman, Vera A; Evina, Ted Grimbert A; Fasina, Oluyemi; Fernández-Teijeiro, Ana; Gandiwa, Moira; Aldana, David García; Geel, Jennifer A; Gizachew, Zelalem; Gregersen, Pernille A; Guedenon, Koffi M; Hadjistilianou, Theodora; Hassan, Sadiq; Hederova, Stanislava; Hessissen, Laila; Hordofa, Diriba F; Hummlen, Marlies; Husakova, Kristina; Ida, Russo; Ilic, Vesna R; Jenkinson, Helen; Amani Kabesha, Theophile B; Kabore, Rolande L; Kalinaki, Abubakar; Kapelushnik, Noa; Kardava, Tamar; Kemilev, Pavlin Kroumov; Kepak, Tomas; Khotenashvili, Zaza; Klett, Artur; Kosh Komba Palet, Jess Elio; Krivaitiene, Dalia; Kruger, Mariana; Kyara, Alice; Lachmann, Eva S; Latinović, Slobodanka; Lecuona, Karin; Lukamba, Robert M; Lumbroso, Livia; Lysytsia, Lesia; Maka, Erika; Makan, Mayuri; Manda, Chatonda; Begue, Nieves Martín; Matende, Ibrahim O; Matua, Marchelo; Mayet, Ismail; Mbumba, Freddy B; Mengesha, Aemero A; Midena, Edoardo; Mndeme, Furahini G; Mohamedani, Ahmed A; Moll, Annette C; Moreira, Claude; Msina, Mchikirwa S; Msukwa, Gerald; Muma, Kangwa I; Murgoi, Gabriela; Musa, Kareem O; Mustak, Hamzah; Muyen, Okwen M; Naidu, Gita; Naumenko, Larisa; Ndoye Roth, Paule Aïda; Neroev, Vladimir; Nikitovic, Marina; Nkanga, Elizabeth D; Nkumbe, Henry; Nyaywa, Mutale; Obono-Obiang, Ghislaine; Oguego, Ngozi C; Olechowski, Andrzej; Oscar, Alexander Hugo; Osei-Bonsu, Peter; Painter, Sally L; Paintsil, Vivian; Paiva, Luisa; Papyan, Ruzanna; Parrozzani, Raffaele; Parulekar, Manoj; Pawinska-Wasikowska, Katarzyna; Perić, Sanja; Philbert, Remezo; Pochop, Pavel; Polyakov, Vladimir G; Pompe, Manca T; Pons, Jonathan J; Raobela, Léa; Renner, Lorna A; Reynders, David; Ribadu, Dahiru; Riheia, Mussagy M; Ritter-Sovinz, Petra; Saakyan, Svetlana; Said, Azza Ma; Román Pacheco, Sonsoles San; Scanlan, Trish A; Schoeman, Judy; Seregard, Stefan; Sherief, Sadik T; Cheikh, Sidi Sidi; Silva, Sónia; Sorochynska, Tetyana; Ssali, Grace; Stathopoulos, Christina; Kranjc, Branka Stirn; Stones, David K; Svojgr, Karel; Sylla, Fatoumata; Tamamyan, Gevorg; Tandili, Alketa; Tateshi, Bekim; Theophile, Tuyisabe; Traoré, Fousseyni; Tyau-Tyau, Harba; Umar, Ali B; Urbak, Steen F; Ushakova, Tatiana L; Valeina, Sandra; Hoefen Wijsard, Milo van; Veleva-Krasteva, Nevyana V; Viksnins, Maris; Wackernagel, Werner; Waddell, Keith; Wade, Patricia D; Wali Nigeria, Amina H; Wime, Amelia Dc; Dod, Charlotte Wolley; Yanga, Jenny M; Yarovaya, Vera A; Yarovoy, Andrey A; Zein, Ekhtelbenina; Sharabi, Shirley; Zhilyaeva, Katsiaryna; Ziko, Othman Ao; Bowman, Richard

BRITISH JOURNAL OF OPHTHALMOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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Instituto de Investigación Sanitaria La Fe (IIS La Fe)
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fabian, I D, Stacey, A W, Foster, A, Kivelä, T T, Munier, F L, Keren-Froim, N, Gomel, N, Cassoux, N, Sagoo, M S, Reddy, M A, Harby, L A, Zondervan, M, Bascaran, C, Abdallah, E, Abdullahi, S U, Boubacar, S A, Ademola-Popoola, D S, Adio, A, Aghaji, A E, Portabella, S A, Alfa Bio, A I, Ali, A M, Alia, D B, All-Eriksson, C, Almeida, A A, Alsawidi, K M, Antonino, R, Astbury, N J, Atsiaya, R, Balaguer, J, Balwierz, W, Barranco, H, Popovic, M B, Benmiloud, S, Guebessi, N B, Berete, R C, Biddulph, S J, Biewald, E M, Blum, S, Bobrova, N, Boehme, M, Bornfeld, N, Bouda, G C, Bouguila, H, Boumedane, A, Brichard, B G, L, M C, Castela, G, Català-Mora, J, Chantada, G L, Chernodrinska, V S, Chiwanga, F S, Cieslik, K, Comsa, C, Correa Llano, M G, Csóka, M, Da Gama, I V, Davidson, A, Potter, P D, Desjardins, L, Dragomir, M D, Bruyn, M D, Kettani, A E, Elbahi, A M, Elgalaly, D, Elhaddad, A M, Ali Elhassan, M M, Elzembely, M M, Essuman, V A, Evina, T G A, Fasina, O, Fernández-Teijeiro, A, Gandiwa, M, Aldana, D G, Geel, J A, Gizachew, Z, Gregersen, P A, Guedenon, K M, Hadjistilianou, T, Hassan, S, Hederova, S, Hessissen, L, Hordofa, D F, Hummlen, M, Husakova, K, Ida, R, Ilic, V R, Jenkinson, H, Amani Kabesha, T B, Kabore, R L, Kalinaki, A, Kapelushnik, N, Kardava, T, Kemilev, P K, Kepak, T, Khotenashvili, Z, Klett, A, Kosh Komba Palet, J E, Krivaitiene, D, Kruger, M, Kyara, A, Lachmann, E S, Latinović, S, Lecuona, K, Lukamba, R M, Lumbroso, L, Lysytsia, L, Maka, E, Makan, M, Manda, C, Begue, N M, Matende, I O, Matua, M, Mayet, I, Mbumba, F B, Mengesha, A A, Midena, E, Mndeme, F G, Mohamedani, A A, Moll, A C, Moreira, C, Msina, M S, Msukwa, G, Muma, K I, Murgoi, G, Musa, K O, Mustak, H, Muyen, O M, Naidu, G, Naumenko, L, Ndoye Roth, P A, Neroev, V, Nikitovic, M, Nkanga, E D, Nkumbe, H, Nyaywa, M, Obono-Obiang, G, Oguego, N C, Olechowski, A, Oscar, A H, Osei-Bonsu, P, Painter, S L, Paintsil, V, Paiva, L, Papyan, R, Parrozzani, R, Parulekar, M, Pawinska-Wasikowska, K, Perić, S, Philbert, R, Pochop, P, Polyakov, V G, Pompe, M T, Pons, J J, Raobela, L, Renner, L A, Reynders, D, Ribadu, D, Riheia, M M, Ritter-Sovinz, P, Saakyan, S, Said, A M, Román Pacheco, S S, Scanlan, T A, Schoeman, J, Seregard, S, Sherief, S T, Cheikh, S S, Silva, S, Sorochynska, T, Ssali, G, Stathopoulos, C, Kranjc, B S, Stones, D K, Svojgr, K, Sylla, F, Tamamyan, G, Tandili, A, Tateshi, B, Theophile, T, Traoré, F, Tyau-Tyau, H, Umar, A B, Urbak, S F, Ushakova, T L, Valeina, S, Hoefen Wijsard, M V, Veleva-Krasteva, N V, Viksnins, M, Wackernagel, W, Waddell, K, Wade, P D, Wali Nigeria, A H, Wime, A D, Dod, C W, Yanga, J M, Yarovaya, V A, Yarovoy, A A, Zein, E, Sharabi, S, Zhilyaeva, K, Ziko, O A & Bowman, R 2021, 'Travel burden and clinical presentation of retinoblastoma : analysis of 1024 patients from 43 African countries and 518 patients from 40 European countries', British Journal of Ophthalmology, vol. 105, no. 10, 316613, pp. 1435-1443. https://doi.org/10.1136/bjophthalmol-2020-316613

Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. Electronic address: perngreg@rm.dk.; Jensen PS; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.; Christensen R; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Lohmann D; Institut für Humangenetik, Universitätsklinikum Essen, University Duisburg-Essen, Essen, Germany.; Racher H; Impact Genetics, Brampton, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Gallie B; Ophthalmology, The Hospital for Sick Children, Toronto, Canada; Departments Ophthalmology and Molecular Genetics, University of Toronto, Canada.; Urbak SF; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Handrup, Mette Møller; Raundal, M; Gregersen, Pernille A; Ejerskov, Cecilie

Handrup, M M, Raundal, M, Gregersen, P A & Ejerskov, C 2020, 'Follow-up guideline for patients with mosaic neurofibromatosis type 1'.

Skovby, Flemming; Gregersen, Pernille A; Kjeldsen, Hans Christian

Skovby, F, Gregersen, P A & Kjeldsen, H C 2020, Pyknodysostose . i Lægehåndbogen . Lægeforeningen, København . < https://www.sundhed.dk/sundhedsfaglig/laegehaandbogen/sjaeldne-sygdomme/sjaeldne-sygdomme/pyknodysostose/ >

Pan, Wayne; Gregersen, Pernille A

Pan, W & Gregersen, P A 2020, ' Lifetime impact of achondroplasia on health-related quality of life (HR-QoL) and healthcare resource use: Interim results from a multinational study ', The 2020 ACMG Annual Clinical Genetics Meeting, 08/03/2020 .

Seiersen KV; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark. Electronic address: kvs@clin.au.dk.; Henriksen TB; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark.; Andelius TCK; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.; Andreasen L; Department of Clinical Genetics, Aarhus University Hospital, Denmark.; Diemer T; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.; Gudmundsdottir G; Department of Neurosurgery, Aarhus University Hospital, Denmark.; Vogel I; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Gjørup V; Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark.; Gregersen PA; Department of Clinical Medicine, Health, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Denmark; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Groth, Kristian A; Krag, Kirstine Stochholm; Hove, Hanne; Kyhl, Kasper; Gregersen, Pernille A; Vejlstrup, Niels; Østergaard, John R; Gravholt, Claus H; Andersen, Niels H

Groth, K A, Krag, K S, Hove, H, Kyhl, K, Gregersen, P A, Vejlstrup, N, Østergaard, J R, Gravholt, C H & Andersen, N H 2017, 'Aortic events in a nationwide Marfan syndrome cohort', Clinical Research in Cardiology, vol. 106, no. 2, pp. 105-112. https://doi.org/10.1007/s00392-016-1028-3

Gregersen, Pernille A; Forbes, Robin; McKay, Victoria; Walsh, Maie; Brown, Erica; McGillivray, George; Savarirayan, Ravi

Gregersen, P A, Forbes, R, McKay, V, Walsh, M, Brown, E, McGillivray, G & Savarirayan, R 2019, 'A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders', The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, 11/09/2019-14/09/2019.

Moosa, Shahida; Gregersen, Pernille A; Hald, Jannie Dahl; Vogel, Ida

Moosa, S, Gregersen, P A, Hald, J D & Vogel, I 2019, 'Implications of identifying a PLS3 deletion as an incidental finding on prenatal testing', The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, 11/09/2019-14/09/2019.

Faergeman, Soren L; Gregersen, Pernille A; Andersen, Brian Nauheimer; Becher, Naja; Bojesen, Anders Bryø

Faergeman, S L, Gregersen, P A, Andersen, B N, Becher, N & Bojesen, A B 2019, 'A novel de novo frameshift variant identified in AHDC1 in two unrelated boys with Xia-Gibbs syndrome', ESHG conference 2019, Gothenburg, Sweden, 17/07/2019-21/12/2019.

Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Stoltze UK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Mehrjouy MM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Barnkob NM; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.; Hjalgrim LL; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Mathiasen R; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Lautrup CK; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.; Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Hasle H; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.; Wehner PS; Department of Paediatric Hematology and Oncology, H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Tuckuviene R; Department of Paediatrics and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark.; Sackett PW; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.; Laspiur AO; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.; Rossing M; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Marvig RL; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Olsen TE; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Scheie D; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Gupta R; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.; Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Schmiegelow K; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Wadt K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Gregersen PA; Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Center for Rare Disorders, Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.; Olsen MH; Unit of Survivorship, Danish Cancer Society Research Center, Copenhagen, Denmark.; Urbak SF; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.; Funding M; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.; Dalton SO; Unit of Survivorship, Danish Cancer Society Research Center, Copenhagen, Denmark.; Department of Clinical Oncology & Palliative Care, Zealand University Hospital, Naestved, Denmark.; Overgaard J; Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.; Alsner J; Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion‐Almeida, Maria‐Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair GW; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López‐González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny EV; Pyle, Louise C; Quintero‐Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf‐Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; Center, UCLA Clinical Genomics; de Kamp, Jiddeke M; Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Consortium, Care4Rare Canada; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A

Huang, L, Vanstone, M R, Hartley, T, Osmond, M, Barrowman, N, Allanson, J, Baker, L, Dabir, T A, Dipple, K M, Dobyns, W B, Estrella, J, Faghfoury, H, Favaro, F P, Goel, H, Gregersen, P A, Gripp, K W, Grix, A, Guion-Almeida, M L, Harr, M H, Hudson, C, Hunter, A G W, Johnson, J, Joss, S K, Kimball, A, Kini, U, Kline, A D, Lauzon, J, Lildballe, D L, López-González, V, Martinezmoles, J, Meldrum, C, Mirzaa, G M, Morel, C F, Morton, J E V, Pyle, L C, Quintero-Rivera, F, Richer, J, Scheuerle, A E, Schönewolf-Greulich, B, Shears, D J, Silver, J, Smith, A C, Temple, I K, van de Kamp, J M, van Dijk, F S, Vandersteen, A M, White, S M, Zackai, E H, Zou, R, Bulman, D E, Care4Rare Canada Consortium & UCLA Clinical Genomics Center 2016, 'Mandibulofacial Dysostosis with Microcephaly : Mutation and Database Update', Human Mutation, vol. 37, no. 2, pp. 148-154. https://doi.org/10.1002/humu.22924
Human Mutation, vol 37, iss 2
Care4Rare Canada Consortium 2016, 'Mandibulofacial dysostosis with microcephaly : Mutation and database update', Human Mutation, vol. 37, no. 2, pp. 148-154. https://doi.org/10.1002/humu.22924
Care4Rare Canada Consortium 2016, ' Mandibulofacial dysostosis with microcephaly : Mutation and database update ', Human Mutation, vol. 37, no. 2, pp. 148-154 . https://doi.org/10.1002/humu.22924

Gregersen, Pernille A; Urbak, Steen F; Funding, Mikkel; Overgaard, Jens; Jensen, Uffe B; Alsner, Jan

Gregersen, P A, Urbak, S F, Funding, M, Overgaard, J, Jensen, U B & Alsner, J 2015, 'Danish retinoblastoma patients 1943-2013-genetic testing and clinical implications', Acta Oncologica, pp. 1-6. https://doi.org/10.3109/0284186X.2015.1099732

Gregersen, Pernille A; Funding, Mikkel; Alsner, Jan; Olsen, Maja H; Overgaard, Jens; Staffieri, Sandra E; Lou, Stina; Urbak, Steen F

Gregersen, P A, Funding, M, Alsner, J, Olsen, M H, Overgaard, J, Staffieri, S E, Lou, S & Urbak, S F 2022, 'Genetic testing in adult survivors of retinoblastoma in Denmark : A study of the experience and impact of genetic testing many years after initial diagnosis', European Journal of Medical Genetics, vol. 65, no. 9, 104569. https://doi.org/10.1016/j.ejmg.2022.104569

van der Sluijs PJ; Joosten M; Alby C; Attié-Bitach T; Gilmore K; Dubourg C; Fradin M; Wang T; Kurtz-Nelson EC; Ahlers KP; Arts P; Barnett CP; Ashfaq M; Baban A; van den Born M; Borrie S; Busa T; Byrne A; Carriero M; Cesario C; Chong K; Cueto-González AM; Dempsey JC; Diderich KEM; Doherty D; Farholt S; Gerkes EH; Gorokhova S; Govaerts LCP; Gregersen PA; Hickey SE; 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 AT; Zahir FR; Scott HS; Earl RK; Eichler EE; Vora NL; Wilnai Y; Giordano JL; Wapner RJ; Rosenfeld JA; Haak MC; Santen GWE

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; PubMed not MEDLINE

Gregersen PA; Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Centre for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.; Funding M; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.; Alsner J; Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.; Olsen MH; Survivorship and Inequality in Cancer, Danish Cancer Society Research Center, Copenhagen, Denmark.; Overgaard J; Department of Experimental Clinical Oncology, Aarhus University Hospital, Aarhus, Denmark.; Urbak SF; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.; Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.; Department of Ophthalmology, Royal Children's Hospital, Parkville, Australia.; Ophthalmology, University of Melbourne, Department of Surgery, Melbourne, Australia.; Lou S; Defactum - Public Health & Health Services Research, Central Denmark Region, Aarhus, Denmark.; Centre for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE