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The Journal of clinical investigation, 2023-02, Vol.133 (3), p.1-11
2023
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Neurology, 2019-03, Vol.92 (11), p.e1225
- van der Knaap, Marjo S
- Bugiani, Marianna
- Mendes, Marisa I
- Riley, Lisa G
- Smith, Desiree E C
- Rudinger-Thirion, Joëlle
- Frugier, Magali
- Breur, Marjolein
- Crawford, Joanna
- van Gaalen, Judith
- Schouten, Meyke
- Willems, Marjolaine
- Waisfisz, Quinten
- Mau-Them, Frederic Tran
- Rodenburg, Richard J
- Taft, Ryan J
- Keren, Boris
- Christodoulou, John
- Depienne, Christel
- Simons, Cas
- Salomons, Gajja S
- Mochel, Fanny
2019
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American journal of human genetics, 2011-02, Vol.88 (2), p.216-225
- Banka, Siddharth
- Blom, Henk J.
- Walter, John
- Aziz, Majid
- Urquhart, Jill
- Clouthier, Christopher M.
- Rice, Gillian I.
- de Brouwer, Arjan P.M.
- Hilton, Emma
- Vassallo, Grace
- Will, Andrew
- Smith, Desirée E.C.
- Smulders, Yvo M.
- Wevers, Ron A.
- Steinfeld, Robert
- Heales, Simon
- Crow, Yanick J.
- Pelletier, Joelle N.
- Jones, Simon
- Newman, William G.
2011
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American journal of human genetics, 2018-04, Vol.102 (4), p.676-684
- Mendes, Marisa I.
- Gutierrez Salazar, Mariana
- Guerrero, Kether
- Thiffault, Isabelle
- Salomons, Gajja S.
- Gauquelin, Laurence
- Tran, Luan T.
- Forget, Diane
- Gauthier, Marie-Soleil
- Waisfisz, Quinten
- Smith, Desiree E.C.
- Simons, Cas
- van der Knaap, Marjo S.
- Marquardt, Iris
- Lemes, Aida
- Mierzewska, Hanna
- Weschke, Bernhard
- Koehler, Wolfgang
- Coulombe, Benoit
- Wolf, Nicole I.
- Bernard, Geneviève
2018
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American journal of human genetics, 2019-08, Vol.105 (2), p.434-440
- Theil, Arjan F.
- Botta, Elena
- Raams, Anja
- Smith, Desiree E.C.
- Mendes, Marisa I.
- Caligiuri, Giuseppina
- Giachetti, Sarah
- Bione, Silvia
- Carriero, Roberta
- Liberi, Giordano
- Zardoni, Luca
- Swagemakers, Sigrid M.A.
- Salomons, Gajja S.
- Sarasin, Alain
- Lehmann, Alan
- van der Spek, Peter J.
- Ogi, Tomoo
- Hoeijmakers, Jan H.J.
- Vermeulen, Wim
- Orioli, Donata
2019
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Human molecular genetics, 2021-08, Vol.30 (18), p.1711-1720
- Botta, Elena
- Theil, Arjan F
- Raams, Anja
- Caligiuri, Giuseppina
- Giachetti, Sarah
- Bione, Silvia
- Accadia, Maria
- Lombardi, Anita
- Smith, Desiree E C
- Mendes, Marisa I
- Swagemakers, Sigrid M A
- van der Spek, Peter J
- Salomons, Gajja S
- Hoeijmakers, Jan H J
- Yesodharan, Dhanya
- Nampoothiri, Sheela
- Ogi, Tomoo
- Lehmann, Alan R
- Orioli, Donata
- Vermeulen, Wim
2021
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PloS one, 2019-09, Vol.14 (9), p.e0221591-e0221591
2019
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Genetics in medicine, 2021-11, Vol.23 (11), p.2202-2207
- Kok, Gautam
- Tseng, Laura
- Schene, Imre F
- Dijsselhof, Monique E
- Salomons, Gajja
- Mendes, Marisa I
- Smith, Desiree E C
- Wiedemann, Arnaud
- Canton, Marie
- Feillet, François
- de Koning, Tom J
- Boothe, Megan
- Dean, Joy
- Kassel, Rachel
- Ferreira, Elise A
- van den Born, Margreet
- Nieuwenhuis, Edward E S
- Rehmann, Holger
- Terheggen-Lagro, Suzanne W J
- van Karnebeek, Clara D M
- Fuchs, Sabine A
2021
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Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2012-07, Vol.900, p.38-47
2012
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Clinical genetics, 2021-06, Vol.99 (6), p.789-801
- Schuch, Luise A.
- Forstner, Maria
- Rapp, Christina K.
- Li, Yang
- Smith, Desiree E. C.
- Mendes, Marisa I.
- Delhommel, Florent
- Sattler, Michael
- Emiralioğlu, Nagehan
- Taskiran, Ekim Z.
- Orhan, Diclehan
- Kiper, Nural
- Rohlfs, Meino
- Jeske, Tim
- Hastreiter, Maximilian
- Gerstlauer, Michael
- Torrent‐Vernetta, Alba
- Moreno‐Galdó, Antonio
- Kammer, Birgit
- Brasch, Frank
- Reu‐Hofer, Simone
- Griese, Matthias
2021
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Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100681-100681, Article 100681
2020
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American journal of human genetics, 2019-03, Vol.104 (3), p.520-529
- Kuo, Molly E.
- Theil, Arjan F.
- Kievit, Anneke
- Malicdan, May Christine
- Introne, Wendy J.
- Christian, Thomas
- Verheijen, Frans W.
- Smith, Desiree E.C.
- Mendes, Marisa I.
- Hussaarts-Odijk, Lidia
- van der Meijden, Eric
- van Slegtenhorst, Marjon
- Wilke, Martina
- Vermeulen, Wim
- Raams, Anja
- Groden, Catherine
- Shimada, Shino
- Meyer-Schuman, Rebecca
- Hou, Ya Ming
- Gahl, William A.
- Antonellis, Anthony
- Salomons, Gajja S.
- Mancini, Grazia M.S.
2019
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Clinical genetics, 2021-04, Vol.99 (4), p.601-603
2021
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Genetics in medicine, 2021-12, Vol.23 (12), p.2352-2359
- Helman, Guy
- Mendes, Marisa I
- Nicita, Francesco
- Darbelli, Lama
- Sherbini, Omar
- Moore, Travis
- Derksen, Alexa
- Amy Pizzino
- Carrozzo, Rosalba
- Torraco, Alessandra
- Catteruccia, Michela
- Aiello, Chiara
- Goffrini, Paola
- Figuccia, Sonia
- Smith, Desiree E C
- Hadzsiev, Kinga
- Hahn, Andreas
- Biskup, Saskia
- Brösse, Ines
- Kotzaeridou, Urania
- Gauck, Darja
- Grebe, Theresa A
- Elmslie, Frances
- Stals, Karen
- Gupta, Rajat
- Bertini, Enrico
- Thiffault, Isabelle
- Taft, Ryan J
- Schiffmann, Raphael
- Brandl, Ulrich
- Haack, Tobias B
- Salomons, Gajja S
- Simons, Cas
- Bernard, Geneviève
- van der Knaap, Marjo S
- Vanderver, Adeline
- Husain, Ralf A
2021
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Human mutation, 2022-10, Vol.43 (10), p.1454-1471
- Bögershausen, Nina
- Krawczyk, Hannah E.
- Jamra, Rami A.
- Lin, Sheng‐Jia
- Yigit, Gökhan
- Hüning, Irina
- Polo, Anna M.
- Vona, Barbara
- Huang, Kevin
- Schmidt, Julia
- Altmüller, Janine
- Luppe, Johannes
- Platzer, Konrad
- Dörgeloh, Beate B.
- Busche, Andreas
- Biskup, Saskia
- Mendes, Marisa I.
- Smith, Desiree E. C.
- Salomons, Gajja S.
- Zibat, Arne
- Bültmann, Eva
- Nürnberg, Peter
- Spielmann, Malte
- Lemke, Johannes R.
- Li, Yun
- Zenker, Martin
- Varshney, Gaurav K.
- Hillen, Hauke S.
- Kratz, Christian P.
- Wollnik, Bernd
2022
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Clinical genetics, 2023-01, Vol.103 (1), p.45-52
2023
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Human mutation, 2021-12, Vol.42 (12), p.1576-1583
- Ravel, Jean‐Marie
- Dreumont, Natacha
- Mosca, Pauline
- Smith, Desiree E. C.
- Mendes, Marisa I.
- Wiedemann, Arnaud
- Coelho, David
- Schmitt, Emmanuelle
- Rivière, Jean‐Baptiste
- Tran Mau‐Them, Frédéric
- Thevenon, Julien
- Kuentz, Paul
- Polivka, Marc
- Fuchs, Sabine A.
- Kok, Gautam
- Thauvin‐Robinet, Christel
- Guéant, Jean‐Louis
- Salomons, Gajja S.
- Faivre, Laurence
- Feillet, François
2021
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JIMD reports, 2024-03, Vol.65 (2), p.49-55
2024
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Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2012-12, Vol.911, p.186-191
2012
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Journal of Alzheimer's disease, 2013-01, Vol.33 (4), p.1097
2013
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Clinical chemistry and laboratory medicine, 2013-03, Vol.51 (3), p.683-692
2013
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Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
2020
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Biochimica et biophysica acta, 2014-06, Vol.1840 (6), p.2070-2079
2014
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American journal of human genetics, 2011-02, Vol.88 (2), p.226-231
2011
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Pediatric pulmonology, 2020-11, Vol.55 (11), p.3057-3066
- Lenz, Dominic
- Stahl, Mirjam
- Seidl, Elias
- Schöndorf, Dominik
- Brennenstuhl, Heiko
- Gesenhues, Florian
- Heinzmann, Tina
- Longerich, Thomas
- Mendes, Marisa I.
- Prokisch, Holger
- Salomons, Gajja S.
- Schön, Carola
- Smith, Desirée E. C.
- Sommerburg, Olaf
- Wagner, Matias
- Westhoff, Jens H.
- Reiter, Karl
- Staufner, Christian
- Griese, Matthias
2020
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