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Clinical genetics, 2023-02, Vol.103 (2), p.167-178
2023
Link zum Volltext
American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.135-143
- Maia, Nuno
- Ibarluzea, Nekane
- Misra‐Isrie, Mala
- Koboldt, Daniel C.
- Marques, Isabel
- Soares, Gabriela
- Santos, Rosário
- Marcelis, Carlo L. M.
- Keski‐Filppula, Riikka
- Guitart, Miriam
- Gabau Vila, Elisabeth
- Lehman, April
- Hickey, Scott
- Mori, Mari
- Terhal, Paulien
- Valenzuela, Irene
- Lasa‐Aranzasti, Amaia
- Cueto‐González, Anna Maria
- Chhouk, Brian H.
- Yeh, Rebecca C.
- Neil, Jennifer E.
- Abu‐Libde, Bassam
- Kleefstra, Tjitske
- Elting, Mariet W.
- Császár, Andrea
- Kárteszi, Judit
- Bessenyei, Beáta
- Bokhoven, Hans
- Jorge, Paula
- Hagen, Johanna M.
- Brouwer, Arjan P. M.
2023
Link zum Volltext
Scientific reports, 2017-03, Vol.7 (1), p.44138-44138, Article 44138
- Urreizti, Roser
- Cueto-Gonzalez, Anna Maria
- Franco-Valls, Héctor
- Mort-Farre, Sílvia
- Roca-Ayats, Neus
- Ponomarenko, Julia
- Cozzuto, Luca
- Company, Carlos
- Bosio, Mattia
- Ossowski, Stephan
- Montfort, Magda
- Hecht, Jochen
- Tizzano, Eduardo F
- Cormand, Bru
- Vilageliu, Lluïsa
- Opitz, John M
- Neri, Giovanni
- Grinberg, Daniel
- Balcells, Susana
2017
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Human molecular genetics, 2022-12, Vol.31 (24), p.4131-4142
- Loberti, Lorenzo
- Bruno, Lucia Pia
- Granata, Stefania
- Doddato, Gabriella
- Resciniti, Sara
- Fava, Francesca
- Carullo, Michele
- Rahikkala, Elisa
- Jouret, Guillaume
- Menke, Leonie A
- Lederer, Damien
- Vrielynck, Pascal
- Ryba, Lukáš
- Brunetti-Pierri, Nicola
- Lasa-Aranzasti, Amaia
- Cueto-González, Anna Maria
- Trujillano, Laura
- Valenzuela, Irene
- Tizzano, Eduardo F
- Spinelli, Alessandro Mauro
- Bruno, Irene
- Currò, Aurora
- Stanzial, Franco
- Benedicenti, Francesco
- Lopergolo, Diego
- Santorelli, Filippo Maria
- Aristidou, Constantia
- Tanteles, George A
- Maystadt, Isabelle
- Tkemaladze, Tinatin
- Reimand, Tiia
- Lokke, Helen
- Õunap, Katrin
- Haanpää, Maria K
- Holubová, Andrea
- Zoubková, Veronika
- Schwarz, Martin
- Žordania, Riina
- Muru, Kai
- Roht, Laura
- Tihveräinen, Annika
- Teek, Rita
- Thomson, Ulvi
- Atallah, Isis
- Superti-Furga, Andrea
- Buoni, Sabrina
- Canitano, Roberto
- Scandurra, Valeria
- Rossetti, Annalisa
- Grosso, Salvatore
- Battini, Roberta
- Baldassarri, Margherita
- Mencarelli, Maria Antonietta
- Rizzo, Caterina Lo
- Bruttini, Mirella
- Mari, Francesca
- Ariani, Francesca
- Renieri, Alessandra
- Pinto, Anna Maria
2022
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Genetics in medicine, 2023-02, Vol.25 (2), p.100004-100004, Article 100004
- 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.
2023
Link zum Volltext
European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.223-230
- Codina-Solà, Marta
- Trujillano, Laura
- Abulí, Anna
- Rovira-Moreno, Eulàlia
- Muñoz-Cabello, Patricia
- Campos, Berta
- Fernández-Álvarez, Paula
- Palau, Dolors
- Carrasco, Estela
- Valenzuela, Irene
- Cueto-González, Anna Maria
- Lasa-Aranzasti, Amaia
- Limeres, Javier
- Leno-Colorado, Jordi
- Costa-Roger, Mar
- Moles-Fernández, Alejandro
- Balmaña, Judith
- Díez, Orland
- Cuscó, Ivon
- Garcia-Arumí, Elena
- Tizzano, Eduardo Fidel
2023
Link zum Volltext
Genetics in medicine, 2022-08, Vol.24 (8), p.1753-1760
- 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.
2022
Link zum Volltext
European journal of medical genetics, 2021-11, Vol.64 (11), p.104338-104338, Article 104338
- Santos-Simarro, Fernando
- Pacio, Marta
- Cueto-González, Anna María
- Mansilla, Elena
- Valenzuela-Palafoll, María Irene
- López-Grondona, Fermina
- Lledín, María Dolores
- Schuffelmann, Cristina
- del Pozo, Ángela
- Solis, Mario
- Vallcorba, Patricia
- Lapunzina, Pablo
- Menéndez Suso, Juan José
- Siccha, Sofia M.
- Montejo, Juan Manuel
- Mena, Rocío
- Jiménez-Rodríguez, Carmen
- García-Miñaúr, Sixto
- Palomares-Bralo, María
2021
Link zum Volltext
Scientific reports, 2017-03
- Urreizti Frexedas, Roser
- Cueto Gonzalez, Anna Maria
- Franco Valls, Héctor
- Mort Farre, Sílvia
- Roca Ayats, Neus
- Ponomarenko, Julia
- Cozzuto, Luca
- Company, Carlos
- Bosio, Mattia
- Ossowski, Stephan
- Montfort, Magda
- Hecht, Jochen
- Tizzano, Eduardo F
- Cormand Rifà, Bru
- Vilageliu i Arqués, Lluïsa
- Opitz, John M
- Neri, Giovanni
- Grinberg Vaisman, Daniel Raúl
- Balcells Comas, Susana
2017
Link zum Volltext
American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1722-1740
- Gazdagh, Gabriella
- Hunt, David
- Gonzalez, Anna Maria Cueto
- Rodriguez, Monserrat Pons
- Chaudhry, Ayeshah
- Madruga, Marcos
- Vansenne, Fleur
- Shears, Deborah
- Curie, Aurore
- Stattin, Eva‐Lena
- Anderlid, Britt‐Marie
- Trajkova, Slavica
- Angelovska, Elena Sukarova
- McWilliam, Catherine
- Wyatt, Philip R.
- O'Driscoll, Mary
- Atton, Giles
- Bergman, Anke K.
- Zacher, Pia
- Mewasingh, Leena D.
- López, Antonio Gonzalez‐Meneses
- Alonso‐Luengo, Olga
- Wai, Htoo A.
- Rohde, Ottilie
- Boiroux, Pauline
- Debant, Anne
- Schmidt, Susanne
- Baralle, Diana
2023
Link zum Volltext
Human mutation, 2014-12, Vol.35 (12), p.1436-1441
- Tenorio, Jair
- Mansilla, Alicia
- Valencia, María
- Martínez-Glez, Víctor
- Romanelli, Valeria
- Arias, Pedro
- Castrejón, Nerea
- Poletta, Fernando
- Guillén-Navarro, Encarna
- Gordo, Gema
- Mansilla, Elena
- García-Santiago, Fé
- González-Casado, Isabel
- Vallespín, Elena
- Palomares, María
- Mori, María A.
- Santos-Simarro, Fernando
- García-Miñaur, Sixto
- Fernández, Luis
- Mena, Rocío
- Benito-Sanz, Sara
- del Pozo, Ángela
- Silla, Juan Carlos
- Ibañez, Kristina
- López-Granados, Eduardo
- Martín-Trujillo, Alex
- Montaner, David
- Heath, Karen E.
- Campos-Barros, Ángel
- Dopazo, Joaquín
- Nevado, Julián
- Monk, David
- Ruiz-Pérez, Víctor L.
- Lapunzina, Pablo
2014
Link zum Volltext
HGG advances, 2024-07, Vol.5 (3), p.100287, Article 100287
- Haghshenas, Sadegheh
- Bout, Hidde J.
- Schijns, Josephine M.
- Kerkhof, Jennifer
- Bhai, Pratibha
- McConkey, Haley
- Williams, Ella M.
- Halliday, Benjamin J.
- Huisman, Sylvia A.
- Lauffer, Peter
- de Waard, Vivian
- Witteveen, Laura
- Hurst, Anna C.E.
- Kaiser, Frank J.
- Martinez-Monseny, Antonio F.
- Fergelot, Patricia
- Monteiro, Fabíola P.
- Parenti, Ilaria
- Persani, Luca
- Simpson, Brittany N.
- Angius, Andrea
- Bedoukian, Emma
- Bhambhani, Vikas
- Bodamer, Olaf
- O’Brien, Alan
- Crisponi, Laura
- Cueto González, Anna María
- the DDD study
- Devriendt, Koenraad
- van Eerde, Albertien
- van den Elzen, Annette P.M.
- Faivre, Laurence
- Fisher, Laura
- Flores-Daboub, Josue A.
- Foster, Alison
- Friedman, Jennifer
- Gabau, Elisabeth
- Galazzi, Elena
- García-Miñaúr, Sixto
- Garavelli, Livia
- Gardeitchik, Thatjana
- Gerkes, Erica H.
- van Gils, Julien
- Garcia, Aixa Gonzalez
- Heimdal, Ketil Riddervold
- Houge, Gunnar
- Hufnagel, Sophia B.
- Ilencikova, Denisa
- Julia, Sophie
- Kant, Sarina G.
- Klee, Eric W.
- Kovačević, Maja
- Lachmeijer, A.M.A. (Guus)
- Lanpher, Brendan
- Lebrun, Marine
- Leon, Eyby
- Lichty, Angie Ward
- Lin, Ruth
- Llano-Rivas, Isabel
- Lynch, Sally Ann
- Maas, Saskia M.
- Maitz, Silvia B.
- McKee, Shane
- Melis, Daniela
- Merati, Elisabetta
- Merla, Giuseppe
- Newbury-Ecob, Ruth
- Park, Soo-Mi
- Patterson, Jennifer
- Peeters, Hilde
- Persico, Ivana
- Pes, Valentina
- Pollazzon, Marzia
- Potjer, Thomas
- Potocki, Lorraine
- Pottinger, Carrie
- Prasad, Chitra
- Prijoles, Eloise J.
- Ragge, Nicola K.
- Rea, Gillian
- Ruivenkamp, Claudia
- Rutz, Audrey
- Russo, Rossana Sanchez
- Santen, Gijs W.E.
- Schaefer, Elise
- Shashi, Vandana
- Sluga, Andrea
- Sotgiu, Stefano
- Steichen-Gersdorf, Elisabeth
- Sullivan, Jennifer A.
- Sun, Yu
- Suri, Mohnish
- Tedder, Matt
- Terhal, Paulien
- Tully, Ian
- White, Susan M.
- Xiao, Bing
- Robertson, Stephen P.
- Sadikovic, Bekim
- Menke, Leonie A.
2024
Link zum Volltext
Scientific reports, 2017
- Urreizti, Roser
- Cueto González, Anna María
- Franco Valls, Héctor
- Mort Farre, Sílvia
- Roca Ayats, Neus
- Ponomarenko, Julia
- Cozzuto, Luca
- Company, Carlos
- Bosio, Mattia
- Ossowski, Stephan
- Montfort, Magda
- Hecht, Jochen
- Tizzano, Eduardo F
- Cormand, Bru
- Vilageliu, Lluïsa
- Opitz, John M
- Neri, Giovanni
- Grinberg, Daniel
- Balcells, Susana
2017
Link zum Volltext
Clinical genetics, 2024-02, Vol.105 (2), p.140-149
2024
Link zum Volltext
European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.469-479
- Tenorio, Jair
- Alarcón, Pablo
- Arias, Pedro
- Dapía, Irene
- García-Miñaur, Sixto
- Palomares Bralo, María
- Campistol, Jaume
- Climent, Salvador
- Valenzuela, Irene
- Ramos, Sergio
- Monseny, Antonio Martínez
- Grondona, Fermina López
- Botet, Javier
- Serrano, Mercedes
- Solís, Mario
- Santos-Simarro, Fernando
- Álvarez, Sara
- Teixidó-Tura, Gisela
- Fernández Jaén, Alberto
- Gordo, Gema
- Bardón Rivera, María Belén
- Nevado, Julián
- Hernández, Alicia
- Cigudosa, Juan C
- Ruiz-Pérez, Víctor L
- Tizzano, Eduardo F
- Lapunzina, Pablo
2020
Link zum Volltext
The Journal of molecular diagnostics : JMD, 2022-05, Vol.24 (5), p.529-542
- Bullich, Gemma
- Matalonga, Leslie
- Pujadas, Montserrat
- Papakonstantinou, Anastasios
- Piscia, Davide
- Tonda, Raúl
- Artuch, Rafael
- Gallano, Pia
- Garrabou, Glòria
- González, Juan R
- Grinberg, Daniel
- Guitart, Míriam
- Laurie, Steven
- Lázaro, Conxi
- Luengo, Cristina
- Martí, Ramon
- Milà, Montserrat
- Ovelleiro, David
- Parra, Genís
- Pujol, Aurora
- Tizzano, Eduardo
- Macaya, Alfons
- Palau, Francesc
- Ribes, Antònia
- Pérez-Jurado, Luis A
- Beltran, Sergi
2022
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