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Journal of youth development (Online), 2019-01, Vol.14 (2), p.217-218
2019
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American journal of human genetics, 2018-04, Vol.102 (4), p.685-695
- Gardeitchik, Thatjana
- Mohamed, Miski
- Ruzzenente, Benedetta
- Karall, Daniela
- Guerrero-Castillo, Sergio
- Dalloyaux, Daisy
- van den Brand, Mariël
- van Kraaij, Sanne
- van Asbeck, Ellyze
- Assouline, Zahra
- Rio, Marlene
- de Lonlay, Pascale
- Scholl-Buergi, Sabine
- Wolthuis, David F.G.J.
- Hoischen, Alexander
- Rodenburg, Richard J.
- Sperl, Wolfgang
- Urban, Zsolt
- Brandt, Ulrich
- Mayr, Johannes A.
- Wong, Sunnie
- de Brouwer, Arjan P.M.
- Nijtmans, Leo
- Munnich, Arnold
- Rötig, Agnès
- Wevers, Ron A.
- Metodiev, Metodi D.
- Morava, Eva
2018
Link zum Volltext
American journal of human genetics, 2017-02, Vol.100 (2), p.216-227
- Van Damme, Tim
- Gardeitchik, Thatjana
- Mohamed, Miski
- Guerrero-Castillo, Sergio
- Freisinger, Peter
- Guillemyn, Brecht
- Kariminejad, Ariana
- Dalloyaux, Daisy
- van Kraaij, Sanne
- Lefeber, Dirk J.
- Syx, Delfien
- Steyaert, Wouter
- De Rycke, Riet
- Hoischen, Alexander
- Kamsteeg, Erik-Jan
- Wong, Sunnie Y.
- van Scherpenzeel, Monique
- Jamali, Payman
- Brandt, Ulrich
- Nijtmans, Leo
- Korenke, G. Christoph
- Chung, Brian H.Y.
- Mak, Christopher C.Y.
- Hausser, Ingrid
- Kornak, Uwe
- Fischer-Zirnsak, Björn
- Strom, Tim M.
- Meitinger, Thomas
- Alanay, Yasemin
- Utine, Gulen E.
- Leung, Peter K.C.
- Ghaderi-Sohi, Siavash
- Coucke, Paul
- Symoens, Sofie
- De Paepe, Anne
- Thiel, Christian
- Haack, Tobias B.
- Malfait, Fransiska
- Morava, Eva
- Callewaert, Bert
- Wevers, Ron A.
2017
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The Journal of pediatrics, 2016-08, Vol.175, p.130-136.e8
- Wong, Sunnie Yan-Wai, BA
- Beamer, Lesa J., PhD
- Gadomski, Therese, BS
- Honzik, Tomas, MD, PhD
- Mohamed, Miski, MD, PhD
- Wortmann, Saskia B., MD, PhD
- Brocke Holmefjord, Katja S., MD
- Mork, Marit, MD
- Bowling, Francis, MD, PhD
- Sykut-Cegielska, Jolanta, MD, PhD
- Koch, Dieter, MD
- Ackermann, Amanda, MD, PhD
- Stanley, Charles A., MD
- Rymen, Daisy, MD, PhD
- Zeharia, Avraham, MD
- Al-Sayed, Moeen, MD
- Marquardt, Thomas, MD
- Jaeken, Jaak, MD, PhD
- Lefeber, Dirk, PhD
- Conrad, Donald F., PhD
- Kozicz, Tamas, MD, PhD
- Morava, Eva, MD, PhD
2016
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Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1382-1391
- Mohamed, Miski
- Gardeitchik, Thatjana
- Balasubramaniam, Shanti
- Guerrero‐Castillo, Sergio
- Dalloyaux, Daisy
- Kraaij, Sanne
- Venselaar, Hanka
- Hoischen, Alexander
- Urban, Zsolt
- Brandt, Ulrich
- Al‐Shawi, Raya
- Simons, J. Paul
- Frison, Michele
- Ngu, Lock‐Hock
- Callewaert, Bert
- Spelbrink, Hans
- Kallemeijn, Wouter W.
- Aerts, Johannes M. F. G.
- Waugh, Mark G.
- Morava, Eva
- Wevers, Ron A.
2020
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Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.907-916
2011
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Neurology, 2013-08, Vol.81 (7), p.681
2013
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European journal of paediatric neurology, 2014-07, Vol.18 (4), p.511-515
2014
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The Journal of the Acoustical Society of America, 2023-03, Vol.153 (3_supplement), p.A296-A296
2023
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Advances in experimental medicine and biology, 2014, Vol.802, p.161
2014
Link zum Volltext
American journal of human genetics, 2020-08, Vol.107 (2), p.374-374
- Van Damme, Tim
- Gardeitchik, Thatjana
- Mohamed, Miski
- Guerrero-Castillo, Sergio
- Freisinger, Peter
- Guillemyn, Brecht
- Kariminejad, Ariana
- Dalloyaux, Daisy
- van Kraaij, Sanne
- Lefeber, Dirk J.
- Syx, Delfien
- Steyaert, Wouter
- De Rycke, Riet
- Hoischen, Alexander
- Kamsteeg, Erik-Jan
- Wong, Sunnie Y.
- van Scherpenzeel, Monique
- Jamali, Payman
- Brandt, Ulrich
- Nijtmans, Leo
- Korenke, G. Christoph
- Chung, Brian H.Y.
- Mak, Christopher C.Y.
- Hausser, Ingrid
- Kornak, Uwe
- Fischer-Zirnsak, Björn
- Strom, Tim M.
- Meitinger, Thomas
- Alanay, Yasemin
- Utine, Gulen E.
- Leung, Kai Ching Peter
- Ghaderi-Sohi, Siavash
- Coucke, Paul
- Symoens, Sofie
- De Paepe, Anne
- Thiel, Christian
- Haack, Tobias B.
- Malfait, Fransiska
- Morava, Eva
- Callewaert, Bert
- Wevers, Ron A.
2020
Link zum Volltext
European journal of human genetics : EJHG, 2014-07, Vol.22 (7), p.888-895
- Gardeitchik, Thatjana
- Mohamed, Miski
- Fischer, Björn
- Lammens, Martin
- Lefeber, Dirk
- Lace, Baiba
- Parker, Michael
- Kim, Ki-Joong
- Lim, Bing C
- Häberle, Johannes
- Garavelli, Livia
- Jagadeesh, Sujatha
- Kariminejad, Ariana
- Guerra, Deanna
- Leão, Michel
- Keski-Filppula, Riikka
- Brunner, Han
- Nijtmans, Leo
- van den Heuvel, Bert
- Wevers, Ron
- Kornak, Uwe
- Morava, Eva
2014
Link zum Volltext
Pediatric dermatology, 2014-01, Vol.31 (1), p.e1-e5
2014
Link zum Volltext
American journal of medical genetics. Part A, 2013-03, Vol.161 (3), p.578-584
2013
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Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.923-927
- Achouitar, Samira
- Mohamed, Miski
- Gardeitchik, Thatjana
- Wortmann, Saskia B.
- Sykut-Cegielska, Jolanta
- Ensenauer, Regina
- de Baulny, Hélène Ogier
- Õunap, Katrin
- Martinelli, Diego
- de Vries, Maaike
- McFarland, Robert
- Kouwenberg, Dorus
- Theodore, Miranda
- Wijburg, Frits
- Grünewald, Stephanie
- Jaeken, Jaak
- Wevers, Ron A.
- Nijtmans, Leo
- Elson, Joanna
- Morava, Eva
2011
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Pediatric dermatology, 2014-01, Vol.31 (1)
2014
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A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
2014
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European journal of human genetics : EJHG, 2011-10, Vol.19 (10), p.1019-1019
2011
Link zum Volltext
Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.691-694
2011
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American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1618-1618
2014
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Journal of inherited metabolic disease, 2011, Vol.34 (4), p.907-916
2011
Link zum Volltext
Molecular genetics and metabolism, 2012-04, Vol.105 (4), p.681-683
2012
Link zum Volltext
Journal of inherited metabolic disease, 2011, Vol.34 (4), p.923-927
- ACHOUITAR, Samira
- MOHAMED, Miski
- MCFARLAND, Robert
- KOUWENBERG, Dorus
- THEODORE, Miranda
- WIJBURG, Frits
- GRÜNEWALD, Stephanie
- JAEKEN, Jaak
- WEVERS, Ron A
- NIJTMANS, Leo
- ELSON, Joanna
- MORAVA, Eva
- GARDEITCHIK, Thatjana
- WORTMANN, Saskia B
- SYKUT-CEGIELSKA, Jolanta
- ENSENAUER, Regina
- OGIER DE BAULNY, Hélène
- OUNAP, Katrin
- MARTINELLI, Diego
- DE VRIES, Maaike
2011
Link zum Volltext
Pediatric Dermatology, 2014, Vol.31 (1), p.e1-e5
2014
Link zum Volltext
American Journal of Medical Genetics Part A, 2013, Vol.161A (3), p.578-584
2013
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