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American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2460-2465
- Braun, Daniela A.
- Shril, Shirlee
- Sinha, Aditi
- Schneider, Ronen
- Tan, Weizhen
- Ashraf, Shazia
- Hermle, Tobias
- Jobst‐Schwan, Tilman
- Widmeier, Eugen
- Majmundar, Amar J.
- Daga, Ankana
- Warejko, Jillian K.
- Nakayama, Makiko
- Schapiro, David
- Chen, Jing
- Airik, Merlin
- Rao, Jia
- Schmidt, Johanna Magdalena
- Hoogstraten, Charlotte A.
- Hugo, Hannah
- Meena, Jitendra
- Lek, Monkol
- Laricchia, Kristen M.
- Bagga, Arvind
- Hildebrandt, Friedhelm
2018
Link zum Volltext
PloS one, 2018-01, Vol.13 (1), p.e0191503
2018
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Nephrology, dialysis, transplantation, 2019-03, Vol.34 (3), p.485-493
- Braun, Daniela A
- Warejko, Jillian K
- Ashraf, Shazia
- Tan, Weizhen
- Daga, Ankana
- Schneider, Ronen
- Hermle, Tobias
- Jobst-Schwan, Tilman
- Widmeier, Eugen
- Majmundar, Amar J
- Nakayama, Makiko
- Schapiro, David
- Rao, Jia
- Schmidt, Johanna Magdalena
- Hoogstraten, Charlotte A
- Hugo, Hannah
- Bakkaloglu, Sevcan A
- Kari, Jameela A
- El Desoky, Sherif
- Daouk, Ghaleb
- Mane, Shrikant
- Lifton, Richard P
- Shril, Shirlee
- Hildebrandt, Friedhelm
2019
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PloS one, 2018-01, Vol.13 (1), p.e0191224-e0191224
- van der Ven, Amelie T
- Kobbe, Birgit
- Kohl, Stefan
- Shril, Shirlee
- Pogoda, Hans-Martin
- Imhof, Thomas
- Ityel, Hadas
- Vivante, Asaf
- Chen, Jing
- Hwang, Daw-Yang
- Connaughton, Dervla M
- Mann, Nina
- Widmeier, Eugen
- Taglienti, Mary
- Schmidt, Johanna Magdalena
- Nakayama, Makiko
- Senguttuvan, Prabha
- Kumar, Selvin
- Tasic, Velibor
- Kehinde, Elijah O
- Mane, Shrikant M
- Lifton, Richard P
- Soliman, Neveen
- Lu, Weining
- Bauer, Stuart B
- Hammerschmidt, Matthias
- Wagener, Raimund
- Hildebrandt, Friedhelm
- Singh, Shree Ram
2018
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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
- Lovric, Svjetlana
- Goncalves, Sara
- Gee, Heon Yung
- Oskouian, Babak
- Srinivas, Honnappa
- Choi, Won-Il
- Shril, Shirlee
- Ashraf, Shazia
- Tan, Weizhen
- Rao, Jia
- Airik, Merlin
- Schapiro, David
- Braun, Daniela A
- Sadowski, Carolin E
- Widmeier, Eugen
- Jobst-Schwan, Tilman
- Schmidt, Johanna Magdalena
- Girik, Vladimir
- Capitani, Guido
- Suh, Jung H
- Lachaussée, Noëlle
- Arrondel, Christelle
- Patat, Julie
- Gribouval, Olivier
- Furlano, Monica
- Boyer, Olivia
- Schmitt, Alain
- Vuiblet, Vincent
- Hashmi, Seema
- Wilcken, Rainer
- Bernier, Francois P
- Innes, A Micheil
- Parboosingh, Jillian S
- Lamont, Ryan E
- Midgley, Julian P
- Wright, Nicola
- Majewski, Jacek
- Zenker, Martin
- Schaefer, Franz
- Kuss, Navina
- Greil, Johann
- Giese, Thomas
- Schwarz, Klaus
- Catheline, Vilain
- Schanze, Denny
- Franke, Ingolf
- Sznajer, Yves
- Truant, Anne S
- Adams, Brigitte
- Désir, Julie
- Biemann, Ronald
- Pei, York
- Ars, Elisabet
- Lloberas, Nuria
- Madrid, Alvaro
- Dharnidharka, Vikas R
- Connolly, Anne M
- Willing, Marcia C
- Cooper, Megan A
- Lifton, Richard P
- Simons, Matias
- Riezman, Howard
- Antignac, Corinne
- Saba, Julie D
- Hildebrandt, Friedhelm
2017
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
Journal of the American Society of Nephrology, 2018-09, Vol.29 (9), p.2348-2361
- van der Ven, Amelie T
- Connaughton, Dervla M
- Ityel, Hadas
- Mann, Nina
- Nakayama, Makiko
- Chen, Jing
- Vivante, Asaf
- Hwang, Daw-Yang
- Schulz, Julian
- Braun, Daniela A
- Schmidt, Johanna Magdalena
- Schapiro, David
- Schneider, Ronen
- Warejko, Jillian K
- Daga, Ankana
- Majmundar, Amar J
- Tan, Weizhen
- Jobst-Schwan, Tilman
- Hermle, Tobias
- Widmeier, Eugen
- Ashraf, Shazia
- Amar, Ali
- Hoogstraaten, Charlotte A
- Hugo, Hannah
- Kitzler, Thomas M
- Kause, Franziska
- Kolvenbach, Caroline M
- Dai, Rufeng
- Spaneas, Leslie
- Amann, Kassaundra
- Stein, Deborah R
- Baum, Michelle A
- Somers, Michael J G
- Rodig, Nancy M
- Ferguson, Michael A
- Traum, Avram Z
- Daouk, Ghaleb H
- Bogdanović, Radovan
- Stajić, Natasa
- Soliman, Neveen A
- Kari, Jameela A
- El Desoky, Sherif
- Fathy, Hanan M
- Milosevic, Danko
- Al-Saffar, Muna
- Awad, Hazem S
- Eid, Loai A
- Selvin, Aravind
- Senguttuvan, Prabha
- Sanna-Cherchi, Simone
- Rehm, Heidi L
- MacArthur, Daniel G
- Lek, Monkol
- Laricchia, Kristen M
- Wilson, Michael W
- Mane, Shrikant M
- Lifton, Richard P
- Lee, Richard S
- Bauer, Stuart B
- Lu, Weining
- Reutter, Heiko M
- Tasic, Velibor
- Shril, Shirlee
- Hildebrandt, Friedhelm
2018
Link zum Volltext
The Journal of clinical investigation, 2018-10, Vol.128 (10), p.4313-4328
- Braun, Daniela A
- Lovric, Svjetlana
- Schapiro, David
- Schneider, Ronen
- Marquez, Jonathan
- Asif, Maria
- Hussain, Muhammad Sajid
- Daga, Ankana
- Widmeier, Eugen
- Rao, Jia
- Ashraf, Shazia
- Tan, Weizhen
- Lusk, C Patrick
- Kolb, Amy
- Jobst-Schwan, Tilman
- Schmidt, Johanna Magdalena
- Hoogstraten, Charlotte A
- Eddy, Kaitlyn
- Kitzler, Thomas M
- Shril, Shirlee
- Moawia, Abubakar
- Schrage, Kathrin
- Khayyat, Arwa Ishaq A
- Lawson, Jennifer A
- Gee, Heon Yung
- Warejko, Jillian K
- Hermle, Tobias
- Majmundar, Amar J
- Hugo, Hannah
- Budde, Birgit
- Motameny, Susanne
- Altmüller, Janine
- Noegel, Angelika Anna
- Fathy, Hanan M
- Gale, Daniel P
- Waseem, Syeda Seema
- Khan, Ayaz
- Kerecuk, Larissa
- Hashmi, Seema
- Mohebbi, Nilufar
- Ettenger, Robert
- Serdaroğlu, Erkin
- Alhasan, Khalid A
- Hashem, Mais
- Goncalves, Sara
- Ariceta, Gema
- Ubetagoyena, Mercedes
- Antonin, Wolfram
- Baig, Shahid Mahmood
- Alkuraya, Fowzan S
- Shen, Qian
- Xu, Hong
- Antignac, Corinne
- Lifton, Richard P
- Mane, Shrikant
- Nürnberg, Peter
- Khokha, Mustafa K
- Hildebrandt, Friedhelm
2018
Link zum Volltext
Kidney international, 2019-05, Vol.95 (5), p.1079-1090
2019
Link zum Volltext
Journal of the American Society of Nephrology, 2017-08, Vol.28 (8), p.2364-2376
- Vivante, Asaf
- Mann, Nina
- Yonath, Hagith
- Weiss, Anna-Carina
- Getwan, Maike
- Kaminski, Michael M
- Bohnenpoll, Tobias
- Teyssier, Catherine
- Chen, Jing
- Shril, Shirlee
- van der Ven, Amelie T
- Ityel, Hadas
- Schmidt, Johanna Magdalena
- Widmeier, Eugen
- Bauer, Stuart B
- Sanna-Cherchi, Simone
- Gharavi, Ali G
- Lu, Weining
- Magen, Daniella
- Shukrun, Rachel
- Lifton, Richard P
- Tasic, Velibor
- Stanescu, Horia C
- Cavaillès, Vincent
- Kleta, Robert
- Anikster, Yair
- Dekel, Benjamin
- Kispert, Andreas
- Lienkamp, Soeren S
- Hildebrandt, Friedhelm
2017
Link zum Volltext
Pediatric nephrology (Berlin, West), 2017-12, Vol.32 (12), p.2273-2282
2017
Link zum Volltext
The Journal of clinical investigation, 2017-12, Vol.127 (12), p.4257-4269
- Rao, Jia
- Ashraf, Shazia
- Tan, Weizhen
- van der Ven, Amelie T
- Gee, Heon Yung
- Braun, Daniela A
- Fehér, Krisztina
- George, Sudeep P
- Esmaeilniakooshkghazi, Amin
- Choi, Won-Il
- Jobst-Schwan, Tilman
- Schneider, Ronen
- Schmidt, Johanna Magdalena
- Widmeier, Eugen
- Warejko, Jillian K
- Hermle, Tobias
- Schapiro, David
- Lovric, Svjetlana
- Shril, Shirlee
- Daga, Ankana
- Nayir, Ahmet
- Shenoy, Mohan
- Tse, Yincent
- Bald, Martin
- Helmchen, Udo
- Mir, Sevgi
- Berdeli, Afig
- Kari, Jameela A
- El Desoky, Sherif
- Soliman, Neveen A
- Bagga, Arvind
- Mane, Shrikant
- Jairajpuri, Mohamad A
- Lifton, Richard P
- Khurana, Seema
- Martins, Jose C
- Hildebrandt, Friedhelm
2017
Link zum Volltext
The Journal of clinical investigation, 2017-12, Vol.127 (12), p.4257
- Rao, Jia
- Ashraf, Shazia
- Tan, Weizhen
- van der Ven, Amelie T
- Gee, Heon Yung
- Braun, Daniela A
- Feher, Krisztina
- George, Sudeep P
- Esmaeilniakooshkghazi, Amin
- Choi, Won-Il
- Jobst-Schwan, Tilman
- Schneider, Ronen
- Schmidt, Johanna Magdalena
- Widmeier, Eugen
- Warejko, Jillian K
- Hermle, Tobias
- Schapiro, David
- Lovric, Svjetlana
- Shril, Shirlee
- Daga, Ankana
- Nayir, Ahmet
- Shenoy, Mohan
- Tse, Yincent
- Bald, Martin
- Helmchen, Udo
- Mir, Sevgi
- Berdeli, Afig
- Kari, Jameela A
- Desoky, Sherif El
- Soliman, Neveen A
- Bagga, Arvind
- Mane, Shrikant
- Jairajpuri, Mohamad A
- Lifton, Richard P
- Khurana, Seema
- Martins, Jose C
- Hildebrandt, Friedhelm
2017
Link zum Volltext
Pediatric nephrology (Berlin, West), 2017-08, Vol.32 (12), p.2273-2282
2017
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
Scientific reports, 2023-06, Vol.13 (1), p.10574-10574, Article 10574
2023
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Annals of anatomy, 2019-01, Vol.221, p.179-185
- Waschke, Jens
- Bergmann, Martin
- Bräuer, Lars
- Brenner, Erich
- Buchhorn, Andreas
- Deutsch, Arlette
- Dokter, Martin
- Egu, Desalegn Tadesse
- Ergün, Süleyman
- Fassnacht, Ulrich
- Fietz, Daniela
- Gundlach, Stefanie
- Heermann, Stephan
- Hirt, Bernhard
- Kugelmann, Daniela
- Müller-Gerbl, Magdalena
- Neiss, Wolfram
- Nimtschke, Ute
- Plendl, Johanna
- Pretterklieber, Michael
- Redies, Christoph
- Scaal, Martin
- Schmidt, Mirko H.H.
- Schmiedl, Andreas
- Schnittler, Hans-Joachim
- Schomerus, Christof
- Sebestény, Tamás
- Spittau, Björn
- Steiniger, Birte
- Tschernig, Thomas
- Unverzagt, Axel
- Viebahn, Christoph
- Voigt, Ernst
- Weigner, Janet
- Weyers, Imke
- Winkelmann, Andreas
- Winkler, Merle
- Paulsen, Friedrich
2019
Link zum Volltext
Acta ophthalmologica (Oxford, England), 2022-02, Vol.100 (1), p.e91-e99
- Stahl, Andreas
- Bründer, Marie‐Christine
- Barth, Teresa
- Guthoff, Rainer
- Krohne, Tim U.
- Pfeil, Johanna M.
- Bühler, Anima
- Daniel, Moritz
- Felzmann, Susanne
- Müller, Claudia
- Reichl, Sabine
- Reiff, Charlotte
- Richter, Olga
- Stech, Milena
- Hentschel, Roland
- Stavropoulou, Dimitra
- Tautz, Juliane
- Bartsch, Kerstin
- Braunstein, Jennifer
- Brinken, Ralf
- Brinkmann, Christian K
- Czauderna, Joanna
- Dralle, Wiebke
- Gliem, Martin
- Goebel, Arno
- Heymer, Philipp
- Hofmann, Martina
- Müller, Philipp
- Petrak, Michael
- Schmitz, Eva J
- Schmitz‐Valckenberg, Steffen
- Schröder, Moritz
- Steinberg, Julia
- Supé, Julia
- Kant, Evelyn
- Kunze, Diana
- Müller, Andreas
- Adorf, Adeline
- Alten, Florian
- Clemens, Christoph R
- Friedhoff, Caroline
- Loos, Desiree Sandra
- Mihailovic, Natasa
- Termühlen, Julia
- Uhlig, Constantin
- Hörnig‐Franz, Isabell
- Rieger‐Fackeldey, Esther
- Tekaat, Maria
- Altmann, Mathias
- Blecha, Christiane
- Brandl, Sabine
- Hufendiek, Karsten
- Jägle, Herbert
- Konrad, Julia
- Lehmann, Fabian
- Keller‐Wackerbauer, Annette
- Kittel, Jochen
- Segerer, Hugo
- Ackermann, Phillip
- Benga, Jemina
- Guthoff, Tanja
- Kleinert, Elena
- Mayatepek, Ertan
- Völker, Magdalena
- Höhn, Thomas
- Lohmeier, Klaus
- Sabir, Hemmen
- Mönig, Tina
- Ehmer, Angela
- Meltendorf, Synke
- Schuart, Claudia
- Avenarius, Stefan
- Apel, Christoph
- Bergmann, Anne
- Herrmann, Karsten
- Ockert‐Schön, Franziska
- Wegener, Sabine
- Nentwich, Martin
- Pressler, Angelika
- Rudolph, Günther
- Genzel‐Boroviczeny, Orsolya
- Schmidt, Susanne
- Münch, Hans‐Georg
- Thilmany, Claude
- Aisenbrey, Sabine
- Dimopoulos, Spyridon
- Hagemann, Ulrike
- Inhoffen, Werner
- Partsch, Michael
- Schrader, Merle
- Süsskind, Daniela
- Völker, Michael
- Müller‐Hansen, Ingo
- Lindemann, Solveig
- Raffel, Yvonne
- Roider, Johann
- Gerding, Heinrich
- Jandeck, Claudia
- Smith, Lois
2022
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- Heidenreich, Ruppert
- Frey, Hermann
- Wertgen, Alexander
- Hillenbrand, Clemens
- Teschner, Hannes
- Busch, Cornelius
- Weber, Pia Anna
- Welling, Verena
- Steins, Gisela
- Schmidt, Hilde Ch
- Winkler, Manfred
- Oelsner, Wolfgang
- Abbenhaus, Rosalia
- Heine-Stoehr, Magdalena
- Graé, Gitta
- Wanke, Ulrich
- Lindenlaub, Udo
- Bosse, Ingo
- Suemnik, Anne
- Kerlen, Kristina
- Klaas, Gabriele
- Knoerck, Anna
- Ahrens, Monika
- Albersmeier, Hubertus
- Bath, Johanna
- Becker, Traute
- Lueffe, Peter
- Magh, Ute
- Sandknop, Ursula
- Wessel, Sabine
- Link, Elfriede
- Zonker, Michael
- Reissner, Volker
- Holtkamp, Josef
2012
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