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Human molecular genetics, 2013-12, Vol.22 (25), p.5121-5135
- Wieczorek, Dagmar
- Bögershausen, Nina
- Beleggia, Filippo
- Steiner-Haldenstätt, Sabine
- Pohl, Esther
- Li, Yun
- Milz, Esther
- Martin, Marcel
- Thiele, Holger
- Altmüller, Janine
- Alanay, Yasemin
- Kayserili, Hülya
- Klein-Hitpass, Ludger
- Böhringer, Stefan
- Wollstein, Andreas
- Albrecht, Beate
- Boduroglu, Koray
- Caliebe, Almuth
- Chrzanowska, Krystyna
- Cogulu, Ozgur
- Cristofoli, Francesca
- Czeschik, Johanna Christina
- Devriendt, Koenraad
- Dotti, Maria Teresa
- Elcioglu, Nursel
- Gener, Blanca
- Goecke, Timm O
- Krajewska-Walasek, Malgorzata
- Guillén-Navarro, Encarnación
- Hayek, Joussef
- Houge, Gunnar
- Kilic, Esra
- Simsek-Kiper, Pelin Özlem
- López-González, Vanesa
- Kuechler, Alma
- Lyonnet, Stanislas
- Mari, Francesca
- Marozza, Annabella
- Mathieu Dramard, Michèle
- Mikat, Barbara
- Morin, Gilles
- Morice-Picard, Fanny
- Ozkinay, Ferda
- Rauch, Anita
- Renieri, Alessandra
- Tinschert, Sigrid
- Utine, G Eda
- Vilain, Catheline
- Vivarelli, Rossella
- Zweier, Christiane
- Nürnberg, Peter
- Rahmann, Sven
- Vermeesch, Joris
- Lüdecke, Hermann-Josef
- Zeschnigk, Michael
- Wollnik, Bernd
2013
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American journal of human genetics, 2010-04, Vol.86 (4), p.551-559
- Alanay, Yasemin
- Avaygan, Hrispima
- Camacho, Natalia
- Utine, G. Eda
- Boduroglu, Koray
- Aktas, Dilek
- Alikasifoglu, Mehmet
- Tuncbilek, Ergul
- Orhan, Diclehan
- Bakar, Filiz Tiker
- Zabel, Bernard
- Superti-Furga, Andrea
- Bruckner-Tuderman, Leena
- Curry, Cindy J.R.
- Pyott, Shawna
- Byers, Peter H.
- Eyre, David R.
- Baldridge, Dustin
- Lee, Brendan
- Merrill, Amy E.
- Davis, Elaine C.
- Cohn, Daniel H.
- Akarsu, Nurten
- Krakow, Deborah
2010
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Clinical dysmorphology, 2014-07, Vol.23 (3), p.111
2014
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Journal of child neurology, 2013-07, Vol.28 (7), p.926-932
2013
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Chest, 2005-09, Vol.128 (3), p.1436-1441
2005
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Journal of AAPOS, 2012-10, Vol.16 (5), p.473-475
2012
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American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.217-229
- Garcia Segarra, Nuria
- Mittaz, Laureane
- Campos-Xavier, Ana Belinda
- Bartels, Cynthia F.
- Tuysuz, Beyhan
- Alanay, Yasemin
- Cimaz, Rolando
- Cormier-Daire, Valerie
- Di Rocco, Maja
- Duba, Hans-Christoph
- Elcioglu, Nursel H.
- Forzano, Francesca
- Hospach, Toni
- Kilic, Esra
- Kuemmerle-Deschner, Jasmin B.
- Mortier, Geert
- Mrusek, Sonja
- Nampoothiri, Sheela
- Obersztyn, Ewa
- Pauli, Richard M.
- Selicorni, Angelo
- Tenconi, Romano
- Unger, Sheila
- Utine, G. Eda
- Wright, Michael
- Zabel, Bernhard
- Warman, Matthew L.
- Superti-Furga, Andrea
- Bonafé, Luisa
2012
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European journal of medical genetics, 2017-05, Vol.60 (5), p.279-283
2017
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Journal francais d'ophtalmologie, 2014-10, Vol.37 (8), p.e123-e124
2014
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Molecular cytogenetics, 2010-05, Vol.3 (1), p.10-10
2010
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American journal of medical genetics. Part A, 2017-12, Vol.173 (12), p.3143-3152
2017
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Turkish journal of pediatrics, 2009-05, Vol.51 (3), p.214-219
2009
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European journal of paediatric neurology, 2014-05, Vol.18 (3), p.327-337
2014
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Human mutation, 2009-05, Vol.30 (5), p.E618-E628
- Bornholdt, Dorothea
- Oeffner, Frank
- König, Arne
- Happle, Rudolf
- Alanay, Yasemin
- Ascherman, Jeffrey
- Benke, Paul J
- del Carmen Boente, María
- van der Burgt, Ineke
- Chassaing, Nicolas
- Ellis, Ian
- Francisco, Christina Raissa I
- Giovanna, Patricia Della
- Hamel, Ben
- Has, Cristina
- Heinelt, Kaatje
- Janecke, Andreas
- Kastrup, Wolfgang
- Loeys, Bart
- Lohrisch, Ingo
- Marcelis, Carlo
- Mehraein, Yasmin
- Nicolas, Marie Eleanore O
- Pagliarini, Dana
- Paradisi, Mauro
- Patrizi, Annalisa
- Piccione, Maria
- Piza-Katzer, Hildegunde
- Prager, Bettina
- Prescott, Katrina
- Strien, Juliane
- Utine, G. Eda
- Zeller, Marc S
- Grzeschik, Karl-Heinz
2009
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European journal of medical genetics, 2006, Vol.49 (1), p.79-82
2006
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American journal of human genetics, 2010-10, Vol.87 (4), p.572-573
- Alanay, Yasemin
- Avaygan, Hrispima
- Camacho, Natalia
- Utine, G. Eda
- Boduroglu, Koray
- Aktas, Dilek
- Alikasifoglu, Mehmet
- Tuncbilek, Ergul
- Orhan, Diclehan
- Bakar, Filiz Tiker
- Zabel, Bernard
- Superti-Furga, Andrea
- Bruckner-Tuderman, Leena
- Curry, Cindy J.R.
- Pyott, Shawna
- Byers, Peter H.
- Eyre, David R.
- Baldridge, Dustin
- Lee, Brendan
- Merrill, Amy E.
- Davis, Elaine C.
- Cohn, Daniel H.
- Akarsu, Nurten
- Krakow, Deborah
2010
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Journal of pediatric hematology/oncology, 2011-05, Vol.33 (4), p.e174-e175
2011
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Turkish journal of pediatrics, 2014-07, Vol.56 (4), p.430-433
2014
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Respiration, 2008-05, Vol.75 (4), p.437-442
2008
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Human mutation, 2009-10, Vol.30 (10), p.1472-1473
- Bornholdt, Dorothea
- Oeffner, Frank
- König, Arne
- Happle, Rudolf
- Alanay, Yasemin
- Ascherman, Jeffrey
- Benke, Paul J.
- del Carmen Boente, María
- van der Burgt, Ineke
- Chassaing, Nicolas
- Ellis, Ian
- Francisco, Christina Raissa I.
- Giovanna, Patricia Della
- Hamel, Ben
- Has, Cristina
- Heinelt, Kaatje
- Janecke, Andreas
- Kastrup, Wolfgang
- Loeys, Bart
- Lohrisch, Ingo
- Marcelis, Carlo
- Mehraein, Yasmin
- Nicolas, Marie Eleanore O.
- Pagliarini, Dana
- Paradisi, Mauro
- Patrizi, Annalisa
- Piccione, Maria
- Piza-Katzer, Hildegunde
- Prager, Bettina
- Prescott, Katrina
- Strien, Juliane
- Utine, G. Eda
- Zeller, Marc S.
- Grzeschik, Karl-Heinz
2009
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Genetics in medicine, 2019-06, Vol.21 (6), p.1295-1307
- van der Sluijs, Pleuntje J
- Jansen, Sandra
- 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
- Fagerberg, Christina
- Gardham, Alice
- Gerkes, Erica H
- Grasshoff, Ute
- van Haeringen, Arie
- den Hollander, Nicolette S
- Horn, Denise
- Hunt, David
- Kant, Sarina G
- 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 S
- 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
- Orellana, Carmen
- 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
- Sanchis Calvo, Amparo
- Simsek-Kiper, Pelin O
- Soares, Gabriela
- Solaeche, Lucia
- Sonmez, Fatma Mujgan
- Splitt, Miranda
- Steenbeek, Duco
- Stegmann, Alexander P A
- Tanabe, Saori
- Uctepe, Eyyup
- Utine, G Eda
- Veenstra-Knol, Hermine E
- Venkateswaran, Sunita
- Vilain, Catheline
- Vincent-Delorme, Catherine
- Vulto-van Silfhout, Anneke T
- Wheeler, Patricia
- Wilson, Golder N
- Wilson, Louise C
- Wollnik, Bernd
- Kosho, Tomoki
- Wieczorek, Dagmar
- Eichler, Evan
- Pfundt, Rolph
- de Vries, Bert B A
- Clayton-Smith, Jill
- Santen, Gijs W E
2019
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European journal of medical genetics, 2008-07, Vol.51 (4), p.343-350
2008
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Turkish journal of pediatrics, 2008-05, Vol.50 (3), p.287-290
2008
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Chest, 2005-09, Vol.128 (3), p.1436-1441
2005
Link zum Volltext
Genetics in medicine, 2019-09, Vol.21 (9), p.2160-2161
- van der Sluijs, Pleuntje J.
- Jansen, Sandra
- Vergano, Samantha A.
- Alanay, Yasemin
- AlKindy, Adila
- Baban, Anwar
- Bayat, Allan
- Beck-Wödl, Stefanie
- Berry, Katherine
- Bijlsma, Emilia K.
- Brouwer, Alwin F.J.
- van der Burgt, Ineke
- Campeau, Philippe M.
- Canham, Natalie
- Chrzanowska, Krystyna
- Chung, Brain H.Y.
- Dahan, Karin
- De Rademaeker, Marjan
- Destree, Anne
- Dudding-Byth, Tracy
- Earl, Rachel
- Elcioglu, Nursel
- Elias, Ellen R.
- Fagerberg, Christina
- Gardham, Alice
- Gerkes, Erica H.
- Grasshoff, Ute
- van Haeringen, Arie
- Heitink, Karin R.
- Herkert, Johanna C.
- den Hollander, Nicolette S.
- Horn, Denise
- Hunt, David
- Kant, Sarina G.
- Kato, Mitsuhiro
- Kayserili, Hülya
- Kilic, Esra
- Krajewska-Walasek, Malgorzata
- Lammers, Kylin
- Laulund, Lone W.
- Lederer, Damien
- Lees, Melissa
- López-González, Vanesa
- Maas, Saskia
- Mancini, Grazia M.S.
- 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.
- Orellana, Carmen
- 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
- Uctepe, Eyyup
- Utine, G. Eda
- Veenstra-Knol, Hermine E.
- Venkateswaran, Sunita
- Vilain, Catheline
- Vincent-Delorme, Catherine
- Vulto-van Silfhout, Anneke T.
- Wheeler, Patricia
- Wilson, Golder N.
- Wilson, Louise C.
- Wollnik, Bernd
- Kosho, Tomoki
- Wieczorek, Dagmar
- Eichler, Evan
- Pfundt, Rolph
- de Vries, Bert B.A.
- Clayton-Smith, Jill
- Santen, Gijs W.E.
2019
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