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American journal of human genetics, 2017-01, Vol.100 (1), p.91-104
- Yan, Kezhi
- Rousseau, Justine
- Littlejohn, Rebecca Okashah
- Kiss, Courtney
- Lehman, Anna
- Rosenfeld, Jill A.
- Stumpel, Constance T.R.
- Stegmann, Alexander P.A.
- Robak, Laurie
- Scaglia, Fernando
- Nguyen, Thi Tuyet Mai
- Fu, He
- Ajeawung, Norbert F.
- Camurri, Maria Vittoria
- Li, Lin
- Gardham, Alice
- Panis, Bianca
- Almannai, Mohammed
- Sacoto, Maria J. Guillen
- Baskin, Berivan
- Ruivenkamp, Claudia
- Xia, Fan
- Bi, Weimin
- Cho, Megan T.
- Potjer, Thomas P.
- Santen, Gijs W.E.
- Parker, Michael J.
- Canham, Natalie
- McKinnon, Margaret
- Potocki, Lorraine
- MacKenzie, Jennifer J.
- Roeder, Elizabeth R.
- Campeau, Philippe M.
- Yang, Xiang-Jiao
2017
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EMBO molecular medicine, 2023-03, Vol.15 (3), p.e16491-n/a
2023
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Frontiers in molecular neuroscience, 2020-02, Vol.13, p.12-12
- Kumar, Raman
- Palmer, Elizabeth
- Gardner, Alison E
- Carroll, Renee
- Banka, Siddharth
- Abdelhadi, Ola
- Donnai, Dian
- Elgersma, Ype
- Curry, Cynthia J
- Gardham, Alice
- Suri, Mohnish
- Malla, Rishikesh
- Brady, Lauren Ilana
- Tarnopolsky, Mark
- Azmanov, Dimitar N
- Atkinson, Vanessa
- Black, Michael
- Baynam, Gareth
- Dreyer, Lauren
- Hayeems, Robin Z
- Marshall, Christian R
- Costain, Gregory
- Wessels, Marja W
- Baptista, Julia
- Drummond, James
- Leffler, Melanie
- Field, Michael
- Gecz, Jozef
2020
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Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2256-n/a
- Alabdulrazzaq, Fatima
- Alanzi, Talal
- Al‐Balool, Haya H.
- Gardham, Alice
- Wakeling, Emma
- Leitch, Harry G.
- AlSayed, Moeenaldeen
- Abdulrahim, Maha
- Aladwani, Abdulaziz
- Romito, Antonio
- Kampe, Kapil
- Ferdinandusse, Sacha
- Aboelanine, Ashraf H.
- Abdullah, Amira
- Alwadani, Amal
- Bastaki, Laila
- Vaz, Frédéric M.
- Bertoli‐Avella, Aida M.
- Marafi, Dana
2023
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Frontiers in genetics, 2018-04, Vol.9, p.149-149
2018
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American journal of human genetics, 2016-07, Vol.99 (1), p.139-153
2016
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European journal of human genetics : EJHG, 2023-09, Vol.31 (9), p.1040-1047
2023
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Clinical dysmorphology, 2022-04, Vol.31 (2), p.106
2022
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Human mutation, 2013-11, Vol.34 (11), p.1519-1528
- Santen, Gijs W.E.
- Aten, Emmelien
- Vulto-van Silfhout, Anneke T.
- Pottinger, Caroline
- van Bon, Bregje W.M.
- van Minderhout, Ivonne J.H.M.
- Snowdowne, Ronelle
- van der Lans, Christian A.C.
- Boogaard, Merel
- Linssen, Margot M.L.
- Vijfhuizen, Linda
- van der Wielen, Michiel J.R.
- Vollebregt, M.J. (Ellen)
- Breuning, Martijn H.
- Kriek, Marjolein
- van Haeringen, Arie
- den Dunnen, Johan T.
- Hoischen, Alexander
- Clayton-Smith, Jill
- de Vries, Bert B.A.
- Hennekam, Raoul C.M.
- van Belzen, Martine J.
- Almureikhi, Mariam
- Baban, Anwar
- Barbosa, Mafalda
- Ben-Omran, Tawfeg
- Berry, Katherine
- Bigoni, Stefania
- Boute, Odile
- Brueton, Louise
- van der Burgt, Ineke
- Canham, Natalie
- Chandler, Kate E.
- Chrzanowska, Krystyna
- Collins, Amanda L.
- de Toni, Teresa
- Dean, John
- den Hollander, Nicolette S.
- Flore, Leigh Anne
- Fryer, Alan
- Gardham, Alice
- Graham Jr, John M.
- Harrison, Victoria
- Horn, Denise
- Jongmans, Marjolijn C.
- Josifova, Dragana
- Kant, Sarina G.
- Kapoor, Seema
- Kingston, Helen
- Kini, Usha
- Kleefstra, Tjitske
- Krajewska-Walasek, Małgorzata
- Kramer, Nancy
- Maas, Saskia M.
- Maciel, Patricia
- Mancini, Grazia M.S.
- Maystadt, Isabelle
- McKee, Shane
- Milunsky, Jeff M.
- Nampoothiri, Sheela
- Newbury-Ecob, Ruth
- Nikkel, Sarah M.
- Parker, Michael J.
- Pérez-Jurado, Luis A.
- Robertson, Stephen P.
- Rooryck, Caroline
- Shears, Debbie
- Silengo, Margherita
- Singh, Ankur
- Smigiel, Robert
- Soares, Gabriela
- Splitt, Miranda
- Stewart, Helen
- Sweeney, Elizabeth
- Tassabehji, May
- Tuysuz, Beyhan
- van Eerde, Albertien M.
- Vincent-Delorme, Catherine
- Wilson, Louise C.
- Yesil, Gozde
2013
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Nature genetics, 2022-10, Vol.54 (10), p.1534-1543
- Sörmann, Janina
- Schewe, Marcus
- Proks, Peter
- Jouen-Tachoire, Thibault
- Rao, Shanlin
- Riel, Elena B
- Agre, Katherine E
- Begtrup, Amber
- Dean, John
- Descartes, Maria
- Fischer, Jan
- Gardham, Alice
- Lahner, Carrie
- Mark, Paul R
- Muppidi, Srikanth
- Pichurin, Pavel N
- Porrmann, Joseph
- Schallner, Jens
- Smith, Kirstin
- Straub, Volker
- Vasudevan, Pradeep
- Willaert, Rebecca
- Carpenter, Elisabeth P
- Rödström, Karin E J
- Hahn, Michael G
- Müller, Thomas
- Baukrowitz, Thomas
- Hurles, Matthew E
- Wright, Caroline F
- Tucker, Stephen J
2022
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American journal of human genetics, 2017-04, Vol.100 (4), p.650-658
- Jansen, Sandra
- Geuer, Sinje
- Pfundt, Rolph
- Brough, Rachel
- Ghongane, Priyanka
- Herkert, Johanna C.
- Marco, Elysa J.
- Willemsen, Marjolein H.
- Kleefstra, Tjitske
- Hannibal, Mark
- Shieh, Joseph T.
- Lynch, Sally Ann
- Flinter, Frances
- FitzPatrick, David R.
- Gardham, Alice
- Bernhard, Birgitta
- Ragge, Nicola
- Newbury-Ecob, Ruth
- Bernier, Raphael
- Kvarnung, Malin
- Magnusson, E.A. Helena
- Wessels, Marja W.
- van Slegtenhorst, Marjon A.
- Monaghan, Kristin G.
- de Vries, Petra
- Veltman, Joris A.
- Lord, Christopher J.
- Vissers, Lisenka E.L.M.
- de Vries, Bert B.A.
2017
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American journal of human genetics, 2016-07, Vol.99 (1), p.125-138
- Fenwick, Aimee L.
- Kliszczak, Maciej
- Cooper, Fay
- Murray, Jennie
- Sanchez-Pulido, Luis
- Twigg, Stephen R.F.
- Goriely, Anne
- McGowan, Simon J.
- Miller, Kerry A.
- Taylor, Indira B.
- Logan, Clare
- Bozdogan, Sevcan
- Danda, Sumita
- Dixon, Joanne
- Elsayed, Solaf M.
- Elsobky, Ezzat
- Gardham, Alice
- Hoffer, Mariette J.V.
- Koopmans, Marije
- McDonald-McGinn, Donna M.
- Santen, Gijs W.E.
- Savarirayan, Ravi
- de Silva, Deepthi
- Vanakker, Olivier
- Wall, Steven A.
- Wilson, Louise C.
- Yuregir, Ozge Ozalp
- Zackai, Elaine H.
- Ponting, Chris P.
- Jackson, Andrew P.
- Wilkie, Andrew O.M.
- Niedzwiedz, Wojciech
- Bicknell, Louise S.
2016
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American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.276-289
2014
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Nature communications, 2023-02, Vol.14 (1), p.853-853, Article 853
- Bernkopf, Marie
- Abdullah, Ummi B
- Bush, Stephen J
- Wood, Katherine A
- Ghaffari, Sahar
- Giannoulatou, Eleni
- Koelling, Nils
- Maher, Geoffrey J
- Thibaut, Loïc M
- Williams, Jonathan
- Blair, Edward M
- Kelly, Fiona Blanco
- Bloss, Angela
- Burkitt-Wright, Emma
- Canham, Natalie
- Deng, Alexander T
- Dixit, Abhijit
- Eason, Jacqueline
- Elmslie, Frances
- Gardham, Alice
- Hay, Eleanor
- Holder, Muriel
- Homfray, Tessa
- Hurst, Jane A
- Johnson, Diana
- Jones, Wendy D
- Kini, Usha
- Kivuva, Emma
- Kumar, Ajith
- Lees, Melissa M
- Leitch, Harry G
- Morton, Jenny E V
- Németh, Andrea H
- Ramachandrappa, Shwetha
- Saunders, Katherine
- Shears, Deborah J
- Side, Lucy
- Splitt, Miranda
- Stewart, Alison
- Stewart, Helen
- Suri, Mohnish
- Clouston, Penny
- Davies, Robert W
- Wilkie, Andrew O M
- Goriely, Anne
2023
Link zum Volltext
American journal of human genetics, 2024-05
- Pagnamenta, Alistair T
- Yu, Jing
- Walker, Susan
- Noble, Alexandra J
- Lord, Jenny
- Dutta, Prasun
- Hashim, Mona
- Camps, Carme
- Green, Hannah
- Devaiah, Smrithi
- Nashef, Lina
- Parr, Jason
- Fratter, Carl
- Ibnouf Hussein, Rana
- Lindsay, Sarah J
- Lalloo, Fiona
- Banos-Pinero, Benito
- Evans, David
- Mallin, Lucy
- Waite, Adrian
- Evans, Julie
- Newman, Andrew
- Allen, Zoe
- Perez-Becerril, Cristina
- Ryan, Gavin
- Hart, Rachel
- Taylor, John
- Bedenham, Tina
- Clement, Emma
- Blair, Ed
- Hay, Eleanor
- Forzano, Francesca
- Higgs, Jenny
- Canham, Natalie
- Majumdar, Anirban
- McEntagart, Meriel
- Lahiri, Nayana
- Stewart, Helen
- Smithson, Sarah
- Calpena, Eduardo
- Jackson, Adam
- Banka, Siddharth
- Titheradge, Hannah
- McGowan, Ruth
- Rankin, Julia
- Shaw-Smith, Charles
- Evans, D Gareth
- Burghel, George J
- Smith, Miriam J
- Anderson, Emily
- Madhu, Rajesh
- Firth, Helen
- Ellard, Sian
- Brennan, Paul
- Anderson, Claire
- Taupin, Doug
- Rogers, Mark T
- Cook, Jackie A
- Durkie, Miranda
- East, James E
- Fowler, Darren
- Wilson, Louise
- Igbokwe, Rebecca
- Gardham, Alice
- Tomlinson, Ian
- Baralle, Diana
- Uhlig, Holm H
- Taylor, Jenny C
2024
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European journal of human genetics : EJHG, 2023-11, Vol.31 (11), p.1251-1260
- Oppermann, Henry
- Marcos-Grañeda, Elia
- Weiss, Linnea A
- Gurnett, Christina A
- Jelsig, Anne Marie
- Vineke, Susanne H
- Isidor, Bertrand
- Mercier, Sandra
- Magnussen, Kari
- Zacher, Pia
- Hashim, Mona
- Pagnamenta, Alistair T
- Race, Simone
- Srivastava, Siddharth
- Frazier, Zoë
- Maiwald, Robert
- Pergande, Matthias
- Milani, Donatella
- Rinelli, Martina
- Levy, Jonathan
- Krey, Ilona
- Fontana, Paolo
- Lonardo, Fortunato
- Riley, Stephanie
- Kretzer, Jasmine
- Rankin, Julia
- Reis, Linda M
- Semina, Elena V
- Reuter, Miriam S
- Scherer, Stephen W
- Iascone, Maria
- Weis, Denisa
- Fagerberg, Christina R
- Brasch-Andersen, Charlotte
- Hansen, Lars Kjaersgaard
- Kuechler, Alma
- Noble, Nathan
- Gardham, Alice
- Tenney, Jessica
- Rathore, Geetanjali
- Beck-Woedl, Stefanie
- Haack, Tobias B
- Pavlidou, Despoina C
- Atallah, Isis
- Vodopiutz, Julia
- Janecke, Andreas R
- Hsieh, Tzung-Chien
- Lesmann, Hellen
- Klinkhammer, Hannah
- Krawitz, Peter M
- Lemke, Johannes R
- Jamra, Rami Abou
- Nieto, Marta
- Tümer, Zeynep
- Platzer, Konrad
2023
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American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1637-1654
- Durkin, Anna
- Albaba, Shadi
- Fry, Andrew E.
- Morton, Jenny E.
- Douglas, Andrew
- Beleza, Ana
- Williams, Denise
- Volker‐Touw, Catharina M.L.
- Lynch, Sally A.
- Canham, Natalie
- Clowes, Virginia
- Straub, Volker
- Lachlan, Katherine
- Gibbon, Frances
- El Gamal, Mayy
- Varghese, Vinod
- Parker, Michael J.
- Newbury‐Ecob, Ruth
- Turnpenny, Peter D.
- Gardham, Alice
- Ghali, Neeti
- Balasubramanian, Meena
2020
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Ophthalmic genetics, 2022-12, Vol.43 (6), p.809-816
- Holt, Richard
- Goudie, David
- Verde, Alejandra Damián
- Gardham, Alice
- Ramond, Francis
- Putoux, Audrey
- Sarkar, Ajoy
- Clowes, Virginia
- Clayton-Smith, Jill
- Banka, Siddharth
- Cortazar Galarza, Laura
- Thuret, Gilles
- Ubeda Erviti, Marta
- Zurutuza Ibarguren, Ane
- Sáez Villaverde, Raquel
- Tamayo Durán, Alejandra
- Ayuso, Carmen
- Bax, Dorine A
- Plaisancie, Julie
- Corton, Marta
- Chassaing, Nicolas
- Calvas, Patrick
- Ragge, Nicola K
2022
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Clinical dysmorphology, 2014-10, Vol.23 (4), p.143
2014
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Clinical dysmorphology, 2012-07, Vol.21 (3), p.170
2012
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Genetics in medicine, 2019-09, Vol.21 (9), p.2160-2161
- Jansen, Sandra
- Vergano Samantha A
- Adachi-Fukuda Miho
- Alanay Yasemin
- AlKindy Adila
- Baban Anwar
- Bayat, Allan
- Beck-Wödl Stefanie
- Berry, Katherine
- Bijlsma, Emilia K
- Bok, Levinus A
- Brouwer Alwin F J
- van der Burgt Ineke
- Campeau, Philippe M
- Canham, Natalie
- Chrzanowska Krystyna
- Chu Yoyo W Y
- Chung Brain H Y
- Dahan, Karin
- De, Rademaeker Marjan
- Destree Anne
- Dudding-Byth Tracy
- Earl, Rachel
- Elcioglu Nursel
- Elias, Ellen R
- Gardham Alice
- Gener Blanca
- Gerkes, Erica H
- Grasshoff Ute
- van Haeringen Arie
- Heitink, Karin R
- Herkert, Johanna C
- den Hollander Nicolette S
- Horn, Denise
- Hunt, David
- Kato Mitsuhiro
- Kayserili Hülya
- Kersseboom Rogier
- Kilic Esra
- Krajewska-Walasek Malgorzata
- Lammers Kylin
- Laulund, Lone W
- Lederer, Damien
- Lees, Melissa
- López-González Vanesa
- Maas Saskia
- Mancini, Grazia M
- Marcelis, Carlo
- Martinez, Francisco
- Maystadt Isabelle
- McGuire, Marianne
- McKee, Shane
- Mehta Sarju
- Metcalfe, Kay
- Milunsky, Jeff
- Mizuno Seiji
- Moeschler, John B
- Netzer, Christian
- Ockeloen, Charlotte W
- Oehl-Jaschkowitz Barbara
- Okamoto Nobuhiko
- Olminkhof Sharon N M
- Pasquier, Laurent
- Pottinger, Caroline
- Riehmer Vera
- Robertson, Stephen P
- Roifman Maian
- Rooryck Caroline
- Ropers, Fabienne G
- Rosello, Monica
- Ruivenkamp Claudia A L
- Sagiroglu, Mahmut S
- Sallevelt Suzanne C E H
- Calvo, Amparo Sanchis
- Simsek-Kiper, Pelin O
- Soares, Gabriela
- Solaeche Lucia
- Sonmez Fatma Mujgan
- Splitt Miranda
- Steenbeek Duco
- Stegmann Alexander P A
- Stumpel Constance T R M
- Tanabe Saori
- Eyyup, Uctepe
- Eda, Utine G
- Veenstra-Knol, Hermine E
- Venkateswaran Sunita
- Vilain Catheline
- Vincent-Delorme, Catherine
- Wheeler, Patricia
- Wilson, Golder N
- Wilson, Louise C
- Wollnik Bernd
- Kosho Tomoki
- Wieczorek Dagmar
- Eichler, Evan
- Rolph, Pfundt
- de Vries Bert B A
- Clayton-Smith, Jill
- Santen Gijs W E
2019
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Brain communications, 2021-01, Vol.3 (3), p.fcab162-fcab162
- Jurkute, Neringa
- Bertacchi, Michele
- Arno, Gavin
- Tocco, Chiara
- Kim, Ungsoo Samuel
- Kruszewski, Adam M
- Avery, Robert A
- Bedoukian, Emma C
- Han, Jinu
- Ahn, Sung Jun
- Pontikos, Nikolas
- Acheson, James
- Davagnanam, Indran
- Bowman, Richard
- Kaliakatsos, Marios
- Gardham, Alice
- Wakeling, Emma
- Oluonye, Ngozi
- Reddy, Maddy Ashwin
- Clark, Elaine
- Rosser, Elisabeth
- Amati-Bonneau, Patrizia
- Charif, Majida
- Lenaers, Guy
- Meunier, Isabelle
- Defoort, Sabine
- Vincent-Delorme, Catherine
- Robson, Anthony G
- Holder, Graham E
- Jeanjean, Luc
- Martinez-Monseny, Antonio
- Vidal-Santacana, Mariona
- Dominici, Chloé
- Gaggioli, Cedric
- Giordano, Nadia
- Caleo, Matteo
- Liu, Grant T
- Webster, Andrew R
- Studer, Michèle
- Yu-Wai-Man, Patrick
2021
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Clinical dysmorphology, 2013-04, Vol.22 (2), p.84
2013
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ACS infectious diseases, 2020-02, Vol.6 (2), p.180-185
- Farmery, James
- Smith, Mike
- Huissoon, Aarnoud
- Furnell, Abigail
- Mead, Adam
- Levine, Adam
- Manzur, Adnan
- Thrasher, Adrian
- Greenhalgh, Alan
- Parker, Alasdair
- Sanchis-Juan, Alba
- Richter, Alex
- Gardham, Alice
- Lawrie, Allan
- Sohal, Aman
- Creaser-Myers, Amanda
- Frary, Amy
- Greinacher, Andreas
- Themistocleous, Andreas
- Peacock, Andrew
- Marshall, Andrew
- Mumford, Andrew
- Rice, Andrew
- Webster, Andrew
- Brady, Angie
- Koziell, Ania
- Manson, Ania
- Chandra, Anita
- Hensiek, Anke
- Veld, Anna Huis In’t
- Maw, Anna
- Kelly, Anne
- Moore, Anthony
- Vonk Noordegraaf, Anton
- Attwood, Antony
- Herwadkar, Archana
- Ghofrani, Ardi
- Houweling, Arjan
- Girerd, Barbara
- Furie, Bruce
- Treacy, Carmen
- Millar, Carolyn
- Sewell, Carrock
- Roughley, Catherine
- Titterton, Catherine
- Williamson, Catherine
- Hadinnapola, Charaka
- Deshpande, Charu
- Toh, Cheng-Hock
- Bacchelli, Chiara
- Patch, Chris
- Geet, Chris Van
- Babbs, Christian
- Bryson, Christine
- Penkett, Christopher
- Rhodes, Christopher
- Watt, Christopher
- Bethune, Claire
- Booth, Claire
- Lentaigne, Claire
- Mcjannet, Coleen
- Church, Colin
- French, Courtney
- Samarghitean, Crina
- Halmagyi, Csaba
- Gale, Daniel
- Greene, Daniel
- Hart, Daniel
- Allsup, David
- Bennett, David
- Edgar, David
- Kiely, David
- Gosal, David
- Perry, David
- Keeling, David
- Montani, David
- Shipley, Debbie
- Whitehorn, Deborah
- Fletcher, Debra
- Krishnakumar, Deepa
- Grozeva, Detelina
- Kumararatne, Dinakantha
- Thompson, Dorothy
- Josifova, Dragana
- Maher, Eamonn
- Wong, Edwin
- Murphy, Elaine
- Dewhurst, Eleanor
- Louka, Eleni
- Rosser, Elisabeth
- Chalmers, Elizabeth
- Colby, Elizabeth
- Drewe, Elizabeth
- Mcdermott, Elizabeth
- Thomas, Ellen
- Staples, Emily
- Clement, Emma
- Matthews, Emma
- Wakeling, Emma
- Oksenhendler, Eric
2020
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Ophthalmic Genetics: Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD, 2022, Vol.43 (6), p.809-816
- Holt, Richard
- Goudie, David
- Verde, Alejandra Damián
- Gardham, Alice
- Ramond, Francis
- Putoux, Audrey
- Sarkar, Ajoy
- Clowes, Virginia
- Clayton-Smith, Jill
- Banka, Siddharth
- Cortazar Galarza, Laura
- Thuret, Gilles
- Ubeda Erviti, Marta
- Zurutuza Ibarguren, Ane
- Sáez Villaverde, Raquel
- Tamayo Durán, Alejandra
- Ayuso, Carmen
- Bax, Dorine A
- Plaisancie, Julie
- Corton, Marta
- Chassaing, Nicolas
- Calvas, Patrick
- Ragge, Nicola K
2022
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