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Trends in molecular medicine, 2023-10, Vol.29 (10), p.783-785
2023
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Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes
2024
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European journal of human genetics : EJHG, 2024-04, Vol.32 (8), p.928-937
- Layo-Carris, Dana E
- Lubin, Emily E
- Sangree, Annabel K
- Clark, Kelly J
- Durham, Emily L
- Gonzalez, Elizabeth M
- Smith, Sarina
- Angireddy, Rajesh
- Wang, Xiao Min
- Weiss, Erin
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Damseh, Nadirah
- Velasco, Danita
- Valenzuela, Irene
- Codina-Solà, Marta
- Ziats, Catherine
- Have, Jaclyn
- Clarkson, Katie
- Steel, Dora
- Kurian, Manju
- Barwick, Katy
- Carrasco, Diana
- Dagli, Aditi I
- Nowaczyk, M J M
- Hančárová, Miroslava
- Bendová, Šárka
- Prchalova, Darina
- Sedláček, Zdeněk
- Baxová, Alica
- Nowak, Catherine Bearce
- Douglas, Jessica
- Chung, Wendy K
- Longo, Nicola
- Platzer, Konrad
- Klöckner, Chiara
- Averdunk, Luisa
- Wieczorek, Dagmar
- Krey, Ilona
- Zweier, Christiane
- Reis, Andre
- Balci, Tugce
- Simon, Marleen
- Kroes, Hester Y
- Wiesener, Antje
- Vasileiou, Georgia
- Marinakis, Nikolaos M
- Veltra, Danai
- Sofocleous, Christalena
- Kosma, Konstantina
- Traeger Synodinos, Joanne
- Voudris, Konstantinos A
- Vuillaume, Marie-Laure
- Gueguen, Paul
- Derive, Nicolas
- Colin, Estelle
- Battault, Clarisse
- Au, Billie
- Delatycki, Martin
- Wallis, Mathew
- Gallacher, Lyndon
- Majdoub, Fatma
- Smal, Noor
- Weckhuysen, Sarah
- Schoonjans, An-Sofie
- Kooy, R Frank
- Meuwissen, Marije
- Cocanougher, Benjamin T
- Taylor, Kathryn
- Pizoli, Carolyn E
- McDonald, Marie T
- James, Philip
- Roeder, Elizabeth R
- Littlejohn, Rebecca
- Borja, Nicholas A
- Thorson, Willa
- King, Kristine
- Stoeva, Radka
- Suerink, Manon
- Nibbeling, Esther
- Baskin, Stephanie
- L E Guyader, Gwenaël
- Kaplan, Julie
- Muss, Candace
- Carere, Deanna Alexis
- Bhoj, Elizabeth J K
- Bryant, Laura M
2024
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European journal of human genetics : EJHG, 2024-07, Vol.32 (8), p.1032-1032
- Layo-Carris, Dana E.
- Lubin, Emily E.
- Sangree, Annabel K.
- Clark, Kelly J.
- Durham, Emily L.
- Gonzalez, Elizabeth M.
- Smith, Sarina
- Angireddy, Rajesh
- Wang, Xiao Min
- Weiss, Erin
- Toutain, Annick
- Mendoza-Londono, Roberto
- Dupuis, Lucie
- Damseh, Nadirah
- Velasco, Danita
- Valenzuela, Irene
- Codina-Solà, Marta
- Ziats, Catherine
- Have, Jaclyn
- Clarkson, Katie
- Steel, Dora
- Kurian, Manju
- Barwick, Katy
- Carrasco, Diana
- Dagli, Aditi I.
- Nowaczyk, M. J. M.
- Hančárová, Miroslava
- Bendová, Šárka
- Prchalova, Darina
- Sedláček, Zdeněk
- Baxová, Alica
- Nowak, Catherine Bearce
- Douglas, Jessica
- Chung, Wendy K.
- Longo, Nicola
- Platzer, Konrad
- Klöckner, Chiara
- Averdunk, Luisa
- Wieczorek, Dagmar
- Krey, Ilona
- Zweier, Christiane
- Reis, Andre
- Balci, Tugce
- Simon, Marleen
- Kroes, Hester Y.
- Wiesener, Antje
- Vasileiou, Georgia
- Marinakis, Nikolaos M.
- Veltra, Danai
- Sofocleous, Christalena
- Kosma, Konstantina
- Synodinos, Joanne Traeger
- Voudris, Konstantinos A.
- Vuillaume, Marie-Laure
- Gueguen, Paul
- Derive, Nicolas
- Colin, Estelle
- Battault, Clarisse
- Au, Billie
- Delatycki, Martin
- Wallis, Mathew
- Gallacher, Lyndon
- Majdoub, Fatma
- Smal, Noor
- Weckhuysen, Sarah
- Schoonjans, An-Sofie
- Kooy, R. Frank
- Meuwissen, Marije
- Cocanougher, Benjamin T.
- Taylor, Kathryn
- Pizoli, Carolyn E.
- McDonald, Marie T.
- James, Philip
- Roeder, Elizabeth R.
- Littlejohn, Rebecca
- Borja, Nicholas A.
- Thorson, Willa
- King, Kristine
- Stoeva, Radka
- Suerink, Manon
- Nibbeling, Esther
- Baskin, Stephanie
- Guyader, Gwenaël L. E.
- Kaplan, Julie
- Muss, Candace
- Carere, Deanna Alexis
- Bhoj, Elizabeth J. K.
- Bryant, Laura M.
2024
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Genetics in medicine, 2020-07, Vol.22 (7), p.1181-1190
2020
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The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48
- Baker, Samuel W.
- Murrell, Jill R.
- Nesbitt, Addie I.
- Pechter, Kieran B.
- Balciuniene, Jorune
- Zhao, Xiaonan
- Yu, Zhenming
- Denenberg, Elizabeth H.
- DeChene, Elizabeth T.
- Wilkens, Alisha B.
- Bhoj, Elizabeth J.
- Guan, Qiaoning
- Dulik, Matthew C.
- Conlin, Laura K.
- Abou Tayoun, Ahmad N.
- Luo, Minjie
- Wu, Chao
- Cao, Kajia
- Sarmady, Mahdi
- Bedoukian, Emma C.
- Tarpinian, Jennifer
- Medne, Livija
- Skraban, Cara M.
- Deardorff, Matthew A.
- Krantz, Ian D.
- Krock, Bryan L.
- Santani, Avni B.
2019
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Genetics in medicine, 2016-04, Vol.18 (4), p.309-315
2016
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American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2919-2925
2020
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American journal of medical genetics. Part A, 2024-07, p.e63816
2024
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American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1877-1880
2020
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Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1001-1012
- Alsharhan, Hind
- He, Miao
- Edmondson, Andrew C.
- Daniel, Earnest J. P.
- Chen, Jie
- Donald, Tyhiesia
- Bakhtiari, Somayeh
- Amor, David J.
- Jones, Elizabeth A.
- Vassallo, Grace
- Vincent, Marie
- Cogné, Benjamin
- Deb, Wallid
- Werners, Arend H.
- Jin, Sheng C.
- Bilguvar, Kaya
- Christodoulou, John
- Webster, Richard I.
- Yearwood, Katherine R.
- Ng, Bobby G.
- Freeze, Hudson H.
- Kruer, Michael C.
- Li, Dong
- Raymond, Kimiyo M.
- Bhoj, Elizabeth J.
- Sobering, Andrew K.
2021
Volltextzugriff (PDF)
Genetics in medicine, 2020-08, Vol.22 (8), p.1338-1347
- Zhang, Li Xin
- Lemire, Gabrielle
- Gonzaga-Jauregui, Claudia
- Molidperee, Sirinart
- Galaz-Montoya, Carolina
- Liu, David S
- Verloes, Alain
- Shillington, Amelle G
- Izumi, Kosuke
- Ritter, Alyssa L
- Keena, Beth
- Zackai, Elaine
- Li, Dong
- Bhoj, Elizabeth
- Tarpinian, Jennifer M
- Bedoukian, Emma
- Kukolich, Mary K
- Innes, A Micheil
- Ediae, Grace U
- Sawyer, Sarah L
- Nair, Karippoth Mohandas
- Soumya, Para Chottil
- Subbaraman, Kinattinkara R
- Probst, Frank J
- Bassetti, Jennifer A
- Sutton, Reid V
- Gibbs, Richard A
- Brown, Chester
- Boone, Philip M
- Holm, Ingrid A
- Tartaglia, Marco
- Ferrero, Giovanni Battista
- Niceta, Marcello
- Dentici, Maria Lisa
- Radio, Francesca Clementina
- Keren, Boris
- Wells, Constance F
- Coubes, Christine
- Laquerrière, Annie
- Aziza, Jacqueline
- Dubucs, Charlotte
- Nampoothiri, Sheela
- Mowat, David
- Patel, Millan S
- Bracho, Ana
- Cammarata-Scalisi, Francisco
- Gezdirici, Alper
- Fernandez-Jaen, Alberto
- Hauser, Natalie
- Zarate, Yuri A
- Bosanko, Katherine A
- Dieterich, Klaus
- Carey, John C
- Chong, Jessica X
- Nickerson, Deborah A
- Bamshad, Michael J
- Lee, Brendan H
- Yang, Xiang-Jiao
- Lupski, James R
- Campeau, Philippe M
2020
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Molecular genetics & genomic medicine, 2023-01, Vol.11 (1), p.e2064-n/a
2023
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American journal of human genetics, 2017-11, Vol.101 (5), p.768-788
- Küry, Sébastien
- van Woerden, Geeske M.
- Besnard, Thomas
- Proietti Onori, Martina
- Latypova, Xénia
- Towne, Meghan C.
- Cho, Megan T.
- Ploeg, Melissa A.
- Sanders, Stephan
- Stessman, Holly A.F.
- Pujol, Aurora
- Distel, Ben
- Robak, Laurie A.
- Bernstein, Jonathan A.
- Denommé-Pichon, Anne-Sophie
- Lesca, Gaëtan
- Sellars, Elizabeth A.
- Berg, Jonathan
- Carré, Wilfrid
- Busk, Øyvind Løvold
- van Bon, Bregje W.M.
- Waugh, Jeff L.
- Deardorff, Matthew
- Hoganson, George E.
- Bosanko, Katherine B.
- Johnson, Diana S.
- Dabir, Tabib
- Holla, Øystein Lunde
- Sarkar, Ajoy
- Tveten, Kristian
- de Bellescize, Julitta
- Braathen, Geir J.
- Terhal, Paulien A.
- Grange, Dorothy K.
- van Haeringen, Arie
- Lam, Christina
- Mirzaa, Ghayda
- Burton, Jennifer
- Bhoj, Elizabeth J.
- Douglas, Jessica
- Santani, Avni B.
- Nesbitt, Addie I.
- Helbig, Katherine L.
- Andrews, Marisa V.
- Begtrup, Amber
- Tang, Sha
- van Gassen, Koen L.I.
- Juusola, Jane
- Foss, Kimberly
- Enns, Gregory M.
- Moog, Ute
- Hinderhofer, Katrin
- Paramasivam, Nagarajan
- Lincoln, Sharyn
- Kusako, Brandon H.
- Lindenbaum, Pierre
- Charpentier, Eric
- Nowak, Catherine B.
- Cherot, Elouan
- Simonet, Thomas
- Ruivenkamp, Claudia A.L.
- Hahn, Sihoun
- Brownstein, Catherine A.
- Xia, Fan
- Schmitt, Sébastien
- Deb, Wallid
- Bonneau, Dominique
- Nizon, Mathilde
- Chelly, Jamel
- Rudolf, Gabrielle
- Sanlaville, Damien
- Parent, Philippe
- Gilbert-Dussardier, Brigitte
- Toutain, Annick
- Sutton, Vernon R.
- Thies, Jenny
- Peart-Vissers, Lisenka E.L.M.
- Boisseau, Pierre
- Vincent, Marie
- Grabrucker, Andreas M.
- Dubourg, Christèle
- Tan, Wen-Hann
- Verbeek, Nienke E.
- Granzow, Martin
- Santen, Gijs W.E.
- Shendure, Jay
- Pasquier, Laurent
- Redon, Richard
- Yang, Yaping
- State, Matthew W.
- Kleefstra, Tjitske
- Cogné, Benjamin
- Petrovski, Slavé
- Retterer, Kyle
- Eichler, Evan E.
- Rosenfeld, Jill A.
- Agrawal, Pankaj B.
- Bézieau, Stéphane
- Odent, Sylvie
- Mercier, Sandra
2017
Volltextzugriff (PDF)
HGG advances, 2022-07, Vol.3 (3), p.100102-100102, Article 100102
- Sobering, Andrew K.
- Bryant, Laura M.
- Li, Dong
- McGaughran, Julie
- Maystadt, Isabelle
- Moortgat, Stephanie
- Graham, John M.
- van Haeringen, Arie
- Ruivenkamp, Claudia
- Cuperus, Roos
- Vogt, Julie
- Morton, Jenny
- Brasch-Andersen, Charlotte
- Steenhof, Maria
- Hansen, Lars Kjærsgaard
- Adler, Élodie
- Lyonnet, Stanislas
- Pingault, Veronique
- Sandrine, Marlin
- Ziegler, Alban
- Donald, Tyhiesia
- Nelson, Beverly
- Holt, Brandon
- Petryna, Oleksandra
- Firth, Helen
- McWalter, Kirsty
- Zyskind, Jacob
- Telegrafi, Aida
- Juusola, Jane
- Person, Richard
- Bamshad, Michael J.
- Earl, Dawn
- Tsai, Anne Chun-Hui
- Yearwood, Katherine R.
- Marco, Elysa
- Nowak, Catherine
- Douglas, Jessica
- Hakonarson, Hakon
- Bhoj, Elizabeth J.
2022
Volltextzugriff (PDF)
American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.1030-1041
2020
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Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1900-n/a
2022
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Genetics in medicine, 2024-10, Vol.26 (10), p.101222, Article 101222
- Strong, Alanna
- March, Michael E.
- Cardinale, Christopher J.
- Liu, Yichuan
- Battig, Mark R.
- Finoti, Livia Sertori
- Matsuoka, Leticia S.
- Watson, Deborah
- Sridhar, Sindura
- Jarrett, James F.
- Cannon, India
- Li, Dong
- Bhoj, Elizabeth
- Zackai, Elaine H.
- Rand, Elizabeth B.
- Wenger, Tara
- Lerman, Bruce B.
- Shikany, Amy
- Weaver, K. Nicole
- Hakonarson, Hakon
2024
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Genetics in medicine, 2020-03, Vol.22 (7), p.1181-1190
2020
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Nature communications, 2023-07, Vol.14 (1), p.4109-4109, Article 4109
- Gracia-Diaz, Carolina
- Zhou, Yijing
- Yang, Qian
- Maroofian, Reza
- Espana-Bonilla, Paula
- Lee, Chul-Hwan
- Zhang, Shuo
- Padilla, Natàlia
- Fueyo, Raquel
- Waxman, Elisa A
- Lei, Sunyimeng
- Otrimski, Garrett
- Li, Dong
- Sheppard, Sarah E
- Mark, Paul
- Harr, Margaret H
- Hakonarson, Hakon
- Rodan, Lance
- Jackson, Adam
- Vasudevan, Pradeep
- Powel, Corrina
- Mohammed, Shehla
- Maddirevula, Sateesh
- Alzaidan, Hamad
- Faqeih, Eissa A
- Efthymiou, Stephanie
- Turchetti, Valentina
- Rahman, Fatima
- Maqbool, Shazia
- Salpietro, Vincenzo
- Ibrahim, Shahnaz H
- di Rosa, Gabriella
- Houlden, Henry
- Alharbi, Maha Nasser
- Al-Sannaa, Nouriya Abbas
- Bauer, Peter
- Zifarelli, Giovanni
- Estaras, Conchi
- Hurst, Anna C E
- Thompson, Michelle L
- Chassevent, Anna
- Smith-Hicks, Constance L
- de la Cruz, Xavier
- Holtz, Alexander M
- Elloumi, Houda Zghal
- Hajianpour, M J
- Rieubland, Claudine
- Braun, Dominique
- Banka, Siddharth
- French, Deborah L
- Heller, Elizabeth A
- Saade, Murielle
- Song, Hongjun
- Ming, Guo-Li
- Alkuraya, Fowzan S
- Agrawal, Pankaj B
- Reinberg, Danny
- Bhoj, Elizabeth J
- Martínez-Balbás, Marian A
- Akizu, Naiara
2023
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The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-16
- Li, Dong
- Battig, Mark R
- Bosch, Daniëlle Gm
- van Haaften, Gijs
- Granger, Leslie
- Petersen, Andrea K
- Pérez-Jurado, Luis A
- Aznar-Laín, Gemma
- Hancarova, Miroslava
- Bendova, Sarka
- Schwarz, Martin
- Kremlikova Pourova, Radka
- Sedlacek, Zdenek
- Keena, Beth A
- March, Michael E
- Hou, Cuiping
- O'Connor, Nora
- Harr, Margaret H
- Towne, Meghan
- Li, Megan
- Tarnopolsky, Mark
- Brady, Lauren
- Faghfoury, Hanna
- Parsley, Lea Kristin
- Agolini, Emanuele
- Dentici, Maria Lisa
- Wright, Meredith
- Lai, Khanh
- Scala, Marcello
- Striano, Pasquale
- Iacomino, Michele
- Zara, Federico
- Cooper, Annina
- Byler, Melissa
- Balci, Tugce B
- Louie, Raymond
- Lyons, Michael
- Douglas, Jessica
- Nowak, Catherine
- Afenjar, Alexandra
- Hoyer, Juliane
- Keren, Boris
- Maas, Saskia M
- Martinez-Agosto, Julian A
- Rabani, Ahna M
- Falk, Marni J
- Ruggiero, Sarah M
- Helbig, Ingo
- Møller, Rikke S
- Krawitz, Peter M
- Ganapathi, Mythily
- Gelb, Bruce D
- Wilson, Ashley
- Jizi, Khadijé
- Quelin, Chloé
- Chick, Erika
- Uchiyama, Yuri
- Matsumoto, Naomichi
- Taira, Ryoji
- Tashiro, Katsuya
- Wollnik, Bernd
- Wagner, Michael
- Kutsche, Barbara
- Hurst, Anna Ce
- Thompson, Michelle L
- Schmidt, Ryan
- Randolph, Linda
- Spillmann, Rebecca C
- Shashi, Vandana
- Cordeiro, Dawn
- Carnevale, Amanda
- Funalot, Benoît
- Tran Mau-Them, Frederic
- Fernandez Garcia Moya, Luis
- Chad, Lauren
- Li, Chumei
- Sanchez-Valle, Amarilis
- Sulem, Patrick
- Gorokhova, Svetlana
- Busa, Tiffany
- Rio, Marlène
- Hadj Habdallah, Hamza
- Lesieur-Sebellin, Marion
- Amiel, Jeanne
- Pingault, Véronique
- Fatus-Fauconnier, Clemence
- Friend, Kathryn
- Halligan, Rebecca K
- Corbett, Mark
- Barnett, Christopher
- Gecz, Jozef
- Leppig, Kathleen
- Pfundt, Rolph
- de Vries, Bert Ba
- van Slegtenhorst, Marjon A
- Brooks, Alice S
- Cogne, Benjamin
- Zackai, Elaine H
- Song, Yuanquan
- Hakonarson, Hakon
2024
Volltextzugriff (PDF)
Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1318-n/a
2020
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Human molecular genetics, 2020-07, Vol.29 (11), p.1900-1921
- Alharatani, Reham
- Ververi, Athina
- Beleza-Meireles, Ana
- Ji, Weizhen
- Mis, Emily
- Patterson, Quinten T
- Griffin, John N
- Bhujel, Nabina
- Chang, Caitlin A
- Dixit, Abhijit
- Konstantino, Monica
- Healy, Christopher
- Hannan, Sumayyah
- Neo, Natsuko
- Cash, Alex
- Li, Dong
- Bhoj, Elizabeth
- Zackai, Elaine H
- Cleaver, Ruth
- Baralle, Diana
- McEntagart, Meriel
- Newbury-Ecob, Ruth
- Scott, Richard
- Hurst, Jane A
- Au, Ping Yee Billie
- Hosey, Marie Therese
- Khokha, Mustafa
- Marciano, Denise K
- Lakhani, Saquib A
- Liu, Karen J
2020
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BMC research notes, 2024-03, Vol.17 (1), p.62-62, Article 62
- Hu, Jianhong
- Korchina, Viktoriya
- Zouk, Hana
- Harden, Maegan V
- Murdock, David
- Macbeth, Alyssa
- Harrison, Steven M
- Lennon, Niall
- Kovar, Christie
- Balasubramanian, Adithya
- Zhang, Lan
- Chandanavelli, Gauthami
- Pasham, Divya
- Rowley, Robb
- Wiley, Ken
- Smith, Maureen E
- Gordon, Adam
- Jarvik, Gail P
- Sleiman, Patrick
- Kelly, Melissa A
- Bland, Harris T
- Murugan, Mullai
- Venner, Eric
- Boerwinkle, Eric
- Prows, Cynthia
- Mahanta, Lisa
- Rehm, Heidi L
- Gibbs, Richard A
- Muzny, Donna M
2024
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American journal of human genetics, 2024-02, Vol.111 (2), p.364-382
- Rigter, Pomme M.F.
- de Konink, Charlotte
- Dunn, Matthew J.
- Proietti Onori, Martina
- Humberson, Jennifer B.
- Thomas, Matthew
- Barnes, Caitlin
- Prada, Carlos E.
- Weaver, K. Nicole
- Ryan, Thomas D.
- Caluseriu, Oana
- Conway, Jennifer
- Calamaro, Emily
- Fong, Chin-To
- Wuyts, Wim
- Meuwissen, Marije
- Hordijk, Eva
- Jonkers, Carsten N.
- Anderson, Lucas
- Yuseinova, Berfin
- Polonia, Sarah
- Beysen, Diane
- Stark, Zornitza
- Savva, Elena
- Poulton, Cathryn
- McKenzie, Fiona
- Bhoj, Elizabeth
- Bupp, Caleb P.
- Bézieau, Stéphane
- Mercier, Sandra
- Blevins, Amy
- Wentzensen, Ingrid M.
- Xia, Fan
- Rosenfeld, Jill A.
- Hsieh, Tzung-Chien
- Krawitz, Peter M.
- Elbracht, Miriam
- Veenma, Danielle C.M.
- Schulman, Howard
- Stratton, Margaret M.
- Küry, Sébastien
- van Woerden, Geeske M.
2024
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