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2021
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331
- Zurek, Birte
- Ellwanger, Kornelia
- Vissers, Lisenka E L M
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- de Voer, Richarda M
- Laurie, Steven
- Matalonga, Leslie
- Gilissen, Christian
- Ossowski, Stephan
- 't Hoen, Peter A C
- Vitobello, Antonio
- Schulze-Hentrich, Julia M
- Riess, Olaf
- Brunner, Han G
- Brookes, Anthony J
- Rath, Ana
- Bonne, Gisèle
- Gumus, Gulcin
- Verloes, Alain
- Hoogerbrugge, Nicoline
- Evangelista, Teresinha
- Harmuth, Tina
- Swertz, Morris
- Spalding, Dylan
- Hoischen, Alexander
- Beltran, Sergi
- Graessner, Holm
2021
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347
- Matalonga, Leslie
- Hernández-Ferrer, Carles
- Piscia, Davide
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- Vissers, Lisenka E L M
- de Voer, Richarda
- Tonda, Raul
- Laurie, Steven
- Fernandez-Callejo, Marcos
- Picó, Daniel
- Garcia-Linares, Carles
- Papakonstantinou, Anastasios
- Corvó, Alberto
- Joshi, Ricky
- Diez, Hector
- Gut, Ivo
- Hoischen, Alexander
- Graessner, Holm
- Beltran, Sergi
2021
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American journal of human genetics, 2021-05, Vol.108 (5), p.840-856
- Coppens, Sandra
- Barnard, Alison M.
- Puusepp, Sanna
- Pajusalu, Sander
- Õunap, Katrin
- Vargas-Franco, Dorianmarie
- Bruels, Christine C.
- Donkervoort, Sandra
- Pais, Lynn
- Chao, Katherine R.
- Goodrich, Julia K.
- England, Eleina M.
- Weisburd, Ben
- Ganesh, Vijay S.
- Gudmundsson, Sanna
- O’Donnell-Luria, Anne
- Nigul, Mait
- Ilves, Pilvi
- Mohassel, Payam
- Siddique, Teepu
- Milone, Margherita
- Nicolau, Stefan
- Maroofian, Reza
- Houlden, Henry
- Hanna, Michael G.
- Quinlivan, Ros
- Beiraghi Toosi, Mehran
- Ghayoor Karimiani, Ehsan
- Costagliola, Sabine
- Deconinck, Nicolas
- Kadhim, Hazim
- Macke, Erica
- Lanpher, Brendan C.
- Klee, Eric W.
- Łusakowska, Anna
- Kostera-Pruszczyk, Anna
- Hahn, Andreas
- Schrank, Bertold
- Nishino, Ichizo
- Ogasawara, Masashi
- El Sherif, Rasha
- Stojkovic, Tanya
- Nelson, Isabelle
- Bonne, Gisèle
- Cohen, Enzo
- Boland-Augé, Anne
- Deleuze, Jean-François
- Meng, Yao
- Töpf, Ana
- Vilain, Catheline
- Pacak, Christina A.
- Rivera-Zengotita, Marie L.
- Bönnemann, Carsten G.
- Straub, Volker
- Handford, Penny A.
- Draper, Isabelle
- Walter, Glenn A.
- Kang, Peter B.
2021
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353
2021
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Genetics in medicine, 2023-04, Vol.25 (4), p.100018-100018, Article 100018
- Banka, Siddharth
- Ciolfi, Andrea
- Dallapiccola, Bruno
- Gilissen, Christian
- López-Martín, Estrella
- Ryba, Lukas
- Tartaglia, Marco
- Thevenon, Julien
- Tran Mau-Them, Frédéric
- Votypka, Pavel
- Faivre, Laurence
- Jackson, Adam
- Kleefstra, Tjitske
- Santen, Gijs W.E.
- Verloes, Alain
- Gao, Fei
- Johari, Mridul
- Morsy, Heba
- Robinson, Peter
- Zurek, Birte
- Kegele, Josua
- Scheffer, Hans
- van de Warrenburg, Bart
- Steehouwer, Marloes
- Maddi, Vatsalya
- Riaz, Umar
- Dizjikan, Farid Yavari
- Straub, Volker
- Papakonstantinou, Anastasios
- Corvo, Alberto
- Fernandez-Callejo, Marcos
- Gumus, Gulcin
- Lagorce, David
- Durr, Alexandra
- Davoine, Claire-Sophie
- Guillot-Noel, Léna
- Evangelista, Teresinha
- Metay, Corinne
- Eymard, Bruno
- Thomas, Coline
- Spalding, Dylan
- Magrinelli, Francesca
- Sisodiya, Sanjay M.
- Zaharieva, Irina
- de Jonghe, Peter
- Van de Vondel, Liedewei
- De Ridder, Willem
- Mutarelli, Margherita
- Varavallo, Alessandra
- Banfi, Sandro
- Piluso, Giulio
- Rossi, Rachele
- Matos, Ana Rita
- Gullo, Irene
- Fernandes, Susana
- Zonneveld-Huijssoon, Eveline
- van Gijn, Marielle
- Mignot, Cyril
- Lacombe, Didier
- Holinski-Feder, Elke
- Cilio, Maria-Roberta
- Depondt, Chantal
- Lederer, Damien
- Mary, Sandrine
- Pérez-Dueñas, Belén
- Masó, Laura Batlle
- Hemelsoet, Dimitri
- Depienne, Christel
- Iacomino, Michele
- Scala, Marcello
- Bourbouli, Mara
- Radio, Francesca Clementina
- De la Paz, Manuel Posada
- Alonso García de la Rosa, F. Javier
- Guerrini, Renzo
- Chinnery, Patrick F.
- Schon, Katherine
- Münchau, Alexander
- Pauly, Martje
- Toutain, Annick
- Molin, Arnaud
- Jouret, Béatrice
- Laudier, Béatrice
- Bonniaud, Bertille
- Paul, Carle
- Schaefer, Élise
- Colin, Estelle
- Prieur, Fabienne
- Alessandri, Jean-Luc
- Martinovic, Jelena
- Lambert, Laëtitia
- Bournez, Marie
- Cordier-Alex, Marie-Pierre
- Fradin, Mélanie
- Hanna, Nadine
- Chassaing, Nicolas
- Naudion, Sophie
- Cusin, Véronica
2023
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American journal of human genetics, 2021-06, Vol.108 (6), p.1164-1164
- Coppens, Sandra
- Barnard, Alison M.
- Puusepp, Sanna
- Pajusalu, Sander
- Õunap, Katrin
- Vargas-Franco, Dorianmarie
- Bruels, Christine C.
- Donkervoort, Sandra
- Pais, Lynn
- Chao, Katherine R.
- Goodrich, Julia K.
- England, Eleina M.
- Weisburd, Ben
- Ganesh, Vijay S.
- Gudmundsson, Sanna
- O’Donnell-Luria, Anne
- Nigul, Mait
- Ilves, Pilvi
- Mohassel, Payam
- Siddique, Teepu
- Milone, Margherita
- Nicolau, Stefan
- Maroofian, Reza
- Houlden, Henry
- Hanna, Michael G.
- Quinlivan, Ros
- Toosi, Mehran Beiraghi
- Karimiani, Ehsan Ghayoor
- Costagliola, Sabine
- Deconinck, Nicolas
- Kadhim, Hazim
- Macke, Erica
- Lanpher, Brendan C.
- Klee, Eric W.
- Łusakowska, Anna
- Kostera-Pruszczyk, Anna
- Hahn, Andreas
- Schrank, Bertold
- Nishino, Ichizo
- Ogasawara, Masashi
- El Sherif, Rasha
- Stojkovic, Tanya
- Nelson, Isabelle
- Bonne, Gisèle
- Cohen, Enzo
- Boland-Augé, Anne
- Deleuze, Jean-François
- Meng, Yao
- Töpf, Ana
- Vilain, Catheline
- Pacak, Christina A.
- Rivera-Zengotita, Marie L.
- Bönnemann, Carsten G.
- Straub, Volker
- Handford, Penny A.
- Draper, Isabelle
- Walter, Glenn A.
- Kang, Peter B.
2021
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The journal of clinical endocrinology and metabolism, 2017-01, Vol.102 (1), p.290-301
- Cohen, Enzo
- Maghnie, Mohamad
- Collot, Nathalie
- Leger, Juliane
- Dastot, Florence
- Polak, Michel
- Rose, Sophie
- Touraine, Philippe
- Duquesnoy, Philippe
- Tauber, Maïté
- Copin, Bruno
- Bertrand, Anne-Marie
- Brioude, Frederic
- Larizza, Daniela
- Edouard, Thomas
- González Briceño, Laura
- Netchine, Irène
- Oliver-Petit, Isabelle
- Sobrier, Marie-Laure
- Amselem, Serge
- Legendre, Marie
2017
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Journal of clinical medicine, 2021-10, Vol.10 (21), p.4834
2021
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1359-1368
2021
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Human mutation, 2019-11, Vol.40 (11), p.2033-2043
- Cohen, Enzo
- Belkacem, Sabrina
- Fedala, Soumeya
- Collot, Nathalie
- Khallouf, Eliane
- Dastot, Florence
- Polak, Michel
- Duquesnoy, Philippe
- Brioude, Frederic
- Rose, Sophie
- Viot, Géraldine
- Soleyan, Aude
- Carel, Jean‐Claude
- Sobrier, Marie‐Laure
- Chanson, Philippe
- Gatelais, Frédérique
- Heinrichs, Claudine
- Kaffel, Noureddine
- Coutant, Regis
- Savaş Erdeve, Şenay
- Kurnaz, Erdal
- Aycan, Zehra
- Thalassinos, Caroline
- Lyonnet, Stanislas
- Şıklar, Zeynep
- Berberoglu, Merih
- Brachet, Cécile
- Amselem, Serge
- Legendre, Marie
2019
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European journal of medical genetics, 2022-01, Vol.65 (1), p.104402-104402, Article 104402
- de Boer, Elke
- Yaldiz, Burcu
- Denommé-Pichon, Anne-Sophie
- Matalonga, Leslie
- Laurie, Steve
- Steyaert, Wouter
- de Reuver, Rick
- Gilissen, Christian
- Kwint, Michael
- Pfundt, Rolph
- Verloes, Alain
- Willemsen, Michèl A.A.P.
- Vries, Bert B.A. de
- Vitobello, A.
- Kleefstra, Tjitske
- Vissers, Lisenka E.L.M.
- Boer, Elke de
- Cohen, Enzo
- Cuesta, Isabel
- Danis, Daniel
- Gao, Fei
- Horvath, Rita
- Johari, Mridul
- Johanson, Lennart
- Li, Shuang
- Morsy, Heba
- Nelson, Isabelle
- Paramonov, Ida
- Paske, Iris B.A.W. te
- Robinson, Peter
- Savarese, Marco
- Töpf, Ana
- Trimouille, Aurélien
- van der Velde, Joeri K.
- Vandrovcova, Jana
- Vitobello, Antonio
- Zurek, Birte
- Abbot, Kristin M.
- Banka, Siddharth
- Benetti, Elisa
- Casari, Giorgio
- Ciolfi, Andrea
- Clayton-Smith, Jill
- Dallapiccola, Bruno
- Ellwanger, Kornelia
- Faivre, Laurence
- Graessner, Holm
- Haack, Tobias B.
- Hammarsjö, Anna
- Havlovicova, Marketa
- Hoischen, Alexander
- Hugon, Anne
- Jackson, Adam
- Kerstjens, Mieke
- Lindstrand, Anna
- Martín, Estrella López
- Macek, Milan
- Maystadt, Isabelle
- Morleo, Manuela
- Nigro, Vicenzo
- Nordgren, Ann
- Pettersson, Maria
- Pinelli, Michele
- Pizzi, Simone
- Posada, Manuel
- Radio, Francesca C.
- Renieri, Alessandra
- Rooryck, Caroline
- Ryba, Lukas
- Santen, Gijs W.E.
- Schwarz, Martin
- Tartaglia, Marco
- Thauvin, Christel
- Torella, Annalaura
- Vissers, Lisenka
- Votypka, Pavel
- Vyshka, Klea
- Zguro, Kristina
2022
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Lecture Notes in Computer Science, 2024, Vol.LNCS-14576, p.269-274
2024
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Global health, epidemiology and genomics, 2022, Vol.2022, p.1-14
- May, Andrew K.
- Seymour, Heather
- Etheredge, Harriet
- Maher, Heather
- Nunes, Marta C.
- Madhi, Shabir A.
- Sokhela, Simiso M.
- Venter, W. D. Francois
- Martinson, Neil
- Nabeemeeah, Firdaus
- Cohen, Cheryl
- Moyes, Jocelyn
- Walaza, Sibongile
- Tempia, Stefano
- Kleynhans, Jackie
- von Gottberg, Anne
- Nel, Jeremy
- Dawood, Halima
- Variava, Ebrahim
- Tollman, Stephen
- Kahn, Kathleen
- Herbst, Kobus
- Wong, Emily B.
- Tiemessen, Caroline T.
- van Blydenstein, Alex
- Murray, Lyle
- Venter, Michelle
- Fabian, June
- Ramsay, Michéle
- Santangelo, Omar Enzo
- Omar Enzo Santangelo
2022
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Dermatology practical & conceptual, 2022-07, Vol.12 (3), p.e2022133-e2022133
2022
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International journal of dermatology, 2022-04, Vol.61 (4), p.461-471
- Errichetti, Enzo
- Ankad, Balachandra S.
- Jha, Abhijeet K.
- Sonthalia, Sidharth
- Akay, Bengu N.
- Bakos, Roberto
- Bhat, Yasmeen J.
- Bosseila, Manal
- Braun, Ralph
- Cabo, Horacio
- Cohen Sabban, Emilia N.
- Chatterjee, Manas
- Daneshpazhooh, Maryam
- Jakhar, Deepak
- Kaliyadan, Feroze
- Kelati, Awatef
- Keshavamurthy, Vinay
- Neema, Shekhar
- Sadek, Ahmed
- Salerni, Gabriel
- Swanson, David L.
- Tejasvi, Trilokraj
- Usatine, Richard
- Lallas, Aimilios
2022
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EJD. European journal of dermatology, 2020-12, Vol.30 (6), p.688-698
- Errichetti, Enzo
- Ankad, Balachandra Suryakant
- Sonthalia, Sidharth
- Jha, Abhijeet Kumar
- Keshavamurthy, Vinay
- Kyrgidis, Athanassios
- Neema, Shekhar
- Chatterjee, Manas
- Kaliyadan, Feroze
- Dogra, Sunil
- Khare, Soumil
- Kelati, Awatef
- Akay, Bengu Nisa
- Cabo, Horacio
- Bhat, Yasmeen Jabeen
- Bosseila, Manal
- Gupta, Atula
- Nair, Pragya
- Gaikwad, Sakshi
- Jayasree, Puravoor
- Sabban, Emilia Noemi Cohen
- Stinco, Giuseppe
- Apalla, Zoe
- Zalaudek, Iris
- Lallas, Aimilios
2020
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