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American journal of ophthalmology, 2008-10, Vol.146 (4), p.602-611.e1
- Bredrup, Cecilie
- Matejas, Verena
- Barrow, Margaret
- Bláhová, Květa
- Bockenhauer, Detlef
- Fowler, Darren J
- Gregson, Richard M
- Maruniak-Chudek, Iwona
- Medeira, Ana
- Mendonça, Erica Laima
- Kagan, Mikhail
- Koenig, Jens
- Krastel, Hermann
- Kroes, Hester Y
- Saggar, Anand
- Sawyer, Taylor
- Schittkowski, Michael
- Świetliński, Janusz
- Thompson, Dorothy
- VanDeVoorde, Rene G
- Wittebol-Post, Dienke
- Woodruff, Geoffrey
- Zurowska, Aleksandra
- Hennekam, Raoul C
- Zenker, Martin
- Russell-Eggitt, Isabelle
2008
Link zum Volltext
American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.311-319
2007
Link zum Volltext
Nature genetics, 2017-10, Vol.49 (10), p.1529-1538
- Braun, Daniela A
- Rao, Jia
- Mollet, Geraldine
- Schapiro, David
- Daugeron, Marie-Claire
- Tan, Weizhen
- Gribouval, Olivier
- Boyer, Olivia
- Revy, Patrick
- Jobst-Schwan, Tilman
- Schmidt, Johanna Magdalena
- Schanze, Denny
- Ashraf, Shazia
- Ullmann, Jeremy F P
- Hoogstraten, Charlotte A
- Boddaert, Nathalie
- Collinet, Bruno
- Martin, Gaëlle
- Liger, Dominique
- Lovric, Svjetlana
- Furlano, Monica
- Guerrera, I Chiara
- Sanchez-Ferras, Oraly
- Hu, Jennifer F
- Boschat, Anne-Claire
- Sanquer, Sylvia
- Menten, Björn
- Vergult, Sarah
- De Rocker, Nina
- Airik, Merlin
- Hermle, Tobias
- Shril, Shirlee
- Widmeier, Eugen
- Gee, Heon Yung
- Choi, Won-Il
- Sadowski, Carolin E
- Pabst, Werner L
- Warejko, Jillian K
- Daga, Ankana
- Basta, Tamara
- Matejas, Verena
- Scharmann, Karin
- Kienast, Sandra D
- Behnam, Babak
- Beeson, Brendan
- Begtrup, Amber
- Bruce, Malcolm
- Ch'ng, Gaik-Siew
- Lin, Shuan-Pei
- Chang, Jui-Hsing
- Chen, Chao-Huei
- Cho, Megan T
- Gaffney, Patrick M
- Gipson, Patrick E
- Hsu, Chyong-Hsin
- Kari, Jameela A
- Ke, Yu-Yuan
- Kiraly-Borri, Cathy
- Lai, Wai-Ming
- Lemyre, Emmanuelle
- Littlejohn, Rebecca Okashah
- Masri, Amira
- Moghtaderi, Mastaneh
- Nakamura, Kazuyuki
- Ozaltin, Fatih
- Praet, Marleen
- Prasad, Chitra
- Prytula, Agnieszka
- Roeder, Elizabeth R
- Rump, Patrick
- Schnur, Rhonda E
- Shiihara, Takashi
- Sinha, Manish D
- Soliman, Neveen A
- Soulami, Kenza
- Sweetser, David A
- Tsai, Wen-Hui
- Tsai, Jeng-Daw
- Topaloglu, Rezan
- Vester, Udo
- Viskochil, David H
- Vatanavicharn, Nithiwat
- Waxler, Jessica L
- Wierenga, Klaas J
- Wolf, Matthias T F
- Wong, Sik-Nin
- Leidel, Sebastian A
- Truglio, Gessica
- Dedon, Peter C
- Mane, Shrikant
- Lifton, Richard P
- Bouchard, Maxime
- Kannu, Peter
- Chitayat, David
- Magen, Daniella
- Callewaert, Bert
- van Tilbeurgh, Herman
- Zenker, Martin
- Antignac, Corinne
- Hildebrandt, Friedhelm
2017
Link zum Volltext
The Journal of clinical investigation, 2011-05, Vol.121 (5), p.2013-2024
- Heeringa, Saskia F
- Chernin, Gil
- Chaki, Moumita
- Zhou, Weibin
- Sloan, Alexis J
- Ji, Ziming
- Xie, Letian X
- Salviati, Leonardo
- Hurd, Toby W
- Vega-Warner, Virginia
- Killen, Paul D
- Raphael, Yehoash
- Ashraf, Shazia
- Ovunc, Bugsu
- Schoeb, Dominik S
- McLaughlin, Heather M
- Airik, Rannar
- Vlangos, Christopher N
- Gbadegesin, Rasheed
- Hinkes, Bernward
- Saisawat, Pawaree
- Trevisson, Eva
- Doimo, Mara
- Casarin, Alberto
- Pertegato, Vanessa
- Giorgi, Gianpietro
- Prokisch, Holger
- Rötig, Agnès
- Nürnberg, Gudrun
- Becker, Christian
- Wang, Su
- Ozaltin, Fatih
- Topaloglu, Rezan
- Bakkaloglu, Aysin
- Bakkaloglu, Sevcan A
- Müller, Dominik
- Beissert, Antje
- Mir, Sevgi
- Berdeli, Afig
- Varpizen, Seza
- Zenker, Martin
- Matejas, Verena
- Santos-Ocaña, Carlos
- Navas, Placido
- Kusakabe, Takehiro
- Kispert, Andreas
- Akman, Sema
- Soliman, Neveen A
- Krick, Stefanie
- Mundel, Peter
- Reiser, Jochen
- Nürnberg, Peter
- Clarke, Catherine F
- Wiggins, Roger C
- Faul, Christian
- Hildebrandt, Friedhelm
2011
Link zum Volltext
Human mutation, 2010-09, Vol.31 (9), p.992-1002
- Matejas, Verena
- Hinkes, Bernward
- Alkandari, Faisal
- Al-Gazali, Lihadh
- Annexstad, Ellen
- Aytac, Mehmet B
- Barrow, Margaret
- Bláhová, Květa
- Bockenhauer, Detlef
- Cheong, Hae Il
- Maruniak-Chudek, Iwona
- Cochat, Pierre
- Dötsch, Jörg
- Gajjar, Priya
- Hennekam, Raoul C
- Janssen, Françoise
- Kagan, Mikhail
- Kariminejad, Ariana
- Kemper, Markus J
- Koenig, Jens
- Kogan, Jillene
- Kroes, Hester Y
- Kuwertz-Bröking, Eberhard
- Lewanda, Amy F
- Medeira, Ana
- Muscheites, Jutta
- Niaudet, Patrick
- Pierson, Michel
- Saggar, Anand
- Seaver, Laurie
- Suri, Mohnish
- Tsygin, Alexey
- Wühl, Elke
- Zurowska, Aleksandra
- Uebe, Steffen
- Hildebrandt, Friedhelm
- Antignac, Corinne
- Zenker, Martin
2010
Link zum Volltext
Human mutation, 2010-09, Vol.31 (9), p.992-1002
- Matejas, Verena
- Hinkes, Bernward
- Alkandari, Faisal
- Al-Gazali, Lihadh
- Annexstad, Ellen
- Aytac, Mehmet B.
- Barrow, Margaret
- Bláhová, Květa
- Bockenhauer, Detlef
- Cheong, Hae Il
- Maruniak-Chudek, Iwona
- Cochat, Pierre
- Dötsch, Jörg
- Gajjar, Priya
- Hennekam, Raoul C.
- Janssen, Françoise
- Kagan, Mikhail
- Kariminejad, Ariana
- Kemper, Markus J.
- Koenig, Jens
- Kogan, Jillene
- Kroes, Hester Y.
- Kuwertz-Bröking, Eberhard
- Lewanda, Amy F.
- Medeira, Ana
- Muscheites, Jutta
- Niaudet, Patrick
- Pierson, Michel
- Saggar, Anand
- Seaver, Laurie
- Suri, Mohnish
- Tsygin, Alexey
- Wühl, Elke
- Zurowska, Aleksandra
- Uebe, Steffen
- Hildebrandt, Friedhelm
- Antignac, Corinne
- Zenker, Martin
2010
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Nephrology, dialysis, transplantation, 2010-09, Vol.25 (9), p.2970-2976
2010
Link zum Volltext
Pediatric nephrology (Berlin, West), 2008-02, Vol.23 (2), p.323-327
2008
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Pediatric nephrology (Berlin, West), 2012-05, Vol.27 (5), p.865-868
2012
Link zum Volltext
Nephrology, dialysis, transplantation, 2006-11, Vol.21 (11), p.3283-3286
2006
Link zum Volltext
Journal of medical genetics, 2007-10, Vol.44 (10), p.651-656
- Zenker, Martin
- Horn, Denise
- Wieczorek, Dagmar
- Allanson, Judith
- Pauli, Silke
- van der Burgt, Ineke
- Doerr, Helmuth-Guenther
- Gaspar, Harald
- Hofbeck, Michael
- Gillessen-Kaesbach, Gabriele
- Koch, Andreas
- Meinecke, Peter
- Mundlos, Stefan
- Nowka, Anja
- Rauch, Anita
- Reif, Silke
- von Schnakenburg, Christian
- Seidel, Heide
- Wehner, Lars-Erik
- Zweier, Christiane
- Bauhuber, Susanne
- Matejas, Verena
- Kratz, Christian P
- Thomas, Christoph
- Kutsche, Kerstin
2007
Link zum Volltext
Nature genetics, 2017-08, Vol.49 (10), p.1529-1538
- Braun, Daniela A.
- Rao, Jia
- Mollet, Geraldine
- Schapiro, David
- Daugeron, Marie-Claire
- Tan, Weizhen
- Gribouval, Olivier
- Boyer, Olivia
- Revy, Patrick
- Jobst-Schwan, Tilman
- Schmidt, Johanna Magdalena
- Lawson, Jennifer A.
- Schanze, Denny
- Ashraf, Shazia
- Boddaert, Nathalie
- Collinet, Bruno
- Martin, Gaëlle
- Liger, Dominique
- Lovric, Svjetlana
- Furlano, Monica
- Guerrera, I. Chiara
- Sanchez-Ferras, Oraly
- Menten, Björn
- Vergult, Sarah
- De Rocker, Nina
- Airik, Merlin
- Hermle, Tobias
- Shril, Shirlee
- Widmeier, Eugen
- Gee, Heon Yung
- Choi, Won-Il
- Sadowski, Carolin E.
- Pabst, Werner L.
- Warejko, Jillian
- Daga, Ankana
- LeBerre, Tamara Basta
- Matejas, Verena
- Behnam, Babak
- Beeson, Brendan
- Begtrup, Amber
- Bruce, Malcolm
- Ch'ng, Gaik-Siew
- Lin, Shuan-Pei
- Chang, Jui-Hsing
- Chen, Chao-Huei
- Cho, Megan T.
- Gipson, Patrick E.
- Hsu, Chyong-Hsin
- Kari, Jameela A.
- Ke, Yu-Yuan
- Kiraly-Borri, Cathy
- Lai, Wai-ming
- Lemyre, Emmanuelle
- Littlejohn, Rebecca Okasha
- Masri, Amira
- Moghtaderi, Mastaneh
- Nakamura, Kazuyuki
- Praet, Marleen
- Prasad, Chitra
- Prytula, Agnieszka
- Roeder, Elizabeth
- Rump, Patrick
- Schnur, Rhonda E.
- Shiihara, Takashi
- Sinha, Manish
- Soliman, Neveen A
- Soulami, Kenza
- Sweetser, David A.
- Tsai, Wen-Hui
- Tsai, Jeng-Daw
- Vester, Udo
- Viskochil, David H.
- Vatanavicharn, Nithiwat
- Waxler, Jessica L.
- Wolf, Matthias T.F.
- Wong, Sik-Nin
- Poduri, Annapurna
- Truglio, Gessica
- Mane, Shrikant
- Lifton, Richard P.
- Bouchard, Maxime
- Kannu, Peter
- Chitayat, David
- Magen, Daniella
- Calleweart, Bert
- van Tilbeurgh, Herman
- Zenker, Martin
- Antignac, Corinne
- Hildebrandt, Friedhelm
2017
Link zum Volltext
Pediatric nephrology (Berlin, West), 2008-06, Vol.23 (6), p.995-1000
2008
Link zum Volltext
American journal of medical genetics. Part A, 2011-10, Vol.155A (10), p.2601-2604
2011
Link zum Volltext
American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.241-247
2007
Link zum Volltext
Pediatric nephrology (Berlin, West), 2008-10, Vol.23 (10), p.1779-1786
2008
Link zum Volltext
Human mutation, 2010-09, Vol.31 (9), p.992
- Matejas, Verena
- Hinkes, Bernward
- Alkandari, Faisal
- Al-Gazali, Lihadh
- Annexstad, Ellen
- Aytac, Mehmet B
- Barrow, Margaret
- Blahova, Kvta
- Bockenhauer, Detlef
- Cheong, Hae Il
- Maruniak-Chudek, Iwona
- Cochat, Pierre
- Dotsch, Jörg
- Gajjar, Priya
- Hennekam, Raoul C
- Janssen, Françoise
- Kagan, Mikhail
- Kariminejad, Ariana
- Kemper, Markus J
- Koenig, Jens
- Kogan, Jillene
- Kroes, Hester Y
- Kuwertz-Broking, Eberhard
- Lewanda, Amy F
- Medeira, Ana
- Muscheites, Jutta
- Niaudet, Patrick
- Pierson, Michel
- Saggar, Anand
- Seaver, Laurie
- Suri, Mohnish
- Tsygin, Alexey
- Wuhl, Elke
- Zurowska, Aleksandra
- Uebe, Steffen
- Hildebrandt, Friedhelm
- Antignac, Corinne
- Zenker, Martin
2010
Link zum Volltext
Human mutation, 2010-09, Vol.31 (9), p.992-1002
- Matejas, Verena
- Hinkes, Bernward
- Alkandari, Faisal
- Al-Gazali, Lihadh
- Annexstad, Ellen
- Aytac, Mehmet B
- Barrow, Margaret
- Blahova, Kveta
- Bockenhauer, Detlef
- Cheong, Hae Il
- Maruniak-Chudek, Iwona
- Cochat, Pierre
- Dotsch, Jorg
- Gajjar, Priya
- Hennekam, Raoul C
- Janssen, Francoise
- Kagan, Mikhail
- Kariminejad, Ariana
- Kemper, Markus J
- Koenig, Jens
- Kogan, Jillene
- Kroes, Hester Y
- Kuwertz-Broking, Eberhard
- Lewanda, Amy F
- Medeira, Ana
- Muscheites, Jutta
- Niaudet, Patrick
- Pierson, Michel
- Saggar, Anand
- Seaver, Laurie
- Suri, Mohnish
- Tsygin, Alexey
- Wuhl, Elke
- Zurowska, Aleksandra
- Uebe, Steffen
- Hildebrandt, Friedhelm
- Antignac, Corinne
- Zenker, Martin
2010
Link zum Volltext
Pediatric nephrology (Berlin, West), 2008, Vol.23 (10), p.1779-1786
2008
Link zum Volltext
Neurogenetics, 2006-05, Vol.7 (2), p.119-126
2006
Link zum Volltext
Pediatric nephrology (Berlin, West), 2008-10, Vol.23 (10), p.1779-1786
2008
Link zum Volltext
Pediatric nephrology (Berlin, West), 2008-10, Vol.23 (10), p.1779
2008
Link zum Volltext
American journal of ophthalmology, 2008, Vol.146 (4), p.602-611
- BREDRUP, Cecilie
- MATEJAS, Verena
- KAGAN, Mikhail
- KOENIG, Jens
- KRASTEL, Hermann
- KROES, Hester Y
- SAGGAR, Anand
- SAWYER, Taylor
- SCHITTKOWSKI, Michael
- SWIETLINSKI, Janusz
- THOMPSON, Dorothy
- VANDEVOORDE, Rene G
- BARROW, Margaret
- WITTEBOL-POST, Dienke
- WOODRUFF, Geoffrey
- ZUROWSKA, Aleksandra
- HENNEKAM, Raoul C
- ZENKER, Martin
- RUSSELL-EGGITT, Isabelle
- BLAHOVA, Kveta
- BOCKENHAUER, Detlef
- FOWLER, Darren J
- GREGSON, Richard M
- MARUNIAK-CHUDEK, Iwona
- MEDEIRA, Ana
- MENDONCA, Erica Laima
2008
Link zum Volltext
Human mutation, 2010-09, Vol.31 (9), p.992-1002
- Matejas, Verena
- Hinkes, Bernward
- Alkandari, Faisal
- Al-Gazali, Lihadh
- Annexstad, Ellen
- Aytac, Mehmet B
- Barrow, Margaret
- Bláhová, Kveta
- Bockenhauer, Detlef
- Cheong, Hae Il
- Maruniak-Chudek, Iwona
- Cochat, Pierre
- Dötsch, Jörg
- Gajjar, Priya
- Hennekam, Raoul C
- Janssen, Françoise
- Kagan, Mikhail
- Kariminejad, Ariana
- Kemper, Markus J
- Koenig, Jens
- Kogan, Jillene
- Kroes, Hester Y
- Kuwertz-Bröking, Eberhard
- Lewanda, Amy F
- Medeira, Ana
- Muscheites, Jutta
- Niaudet, Patrick
- Pierson, Michel
- Saggar, Anand
- Seaver, Laurie
- Suri, Mohnish
- Tsygin, Alexey
- Wühl, Elke
- Zurowska, Aleksandra
- Uebe, Steffen
- Hildebrandt, Friedhelm
- Antignac, Corinne
- Zenker, Martin
2010
Link zum Volltext
European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1379-1386
2020
Link zum Volltext
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