학술논문
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'학술논문'
에서 검색결과 31건 | 목록
1~20
Academic Journal
Anna Worthmann; Julius Ridder; Sharlaine Y. L. Piel; Ioannis Evangelakos; Melina Musfeldt; Hannah Voß; Marie O’Farrell; Alexander W. Fischer; Sangeeta Adak; Monica Sundd; Hasibullah Siffeti; Friederike Haumann; Katja Kloth; Tatjana Bierhals; Markus Heine; Paul Pertzborn; Mira Pauly; Julia-Josefine Scholz; Suman Kundu; Marceline M. Fuh; Axel Neu; Klaus Tödter; Maja Hempel; Uwe Knippschild; Clay F. Semenkovich; Hartmut Schlüter; Joerg Heeren; Ludger Scheja; Christian Kubisch; Christian Schlein
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Academic Journal
Katja Kloth; Denise Obrecht; Dominik Sturm; Torsten Pietsch; Monika Warmuth-Metz; Brigitte Bison; Martin Mynarek; Stefan Rutkowski
Frontiers in Oncology, Vol 11 (2021)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Academic Journal
Katja Kloth; Matthis Synofzik; Christoph Kernstock; Simone Schimpf-Linzenbold; Frank Schuettauf; Axel Neu; Bernd Wissinger; Nicole Weisschuh
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-10 (2019)
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Academic Journal
Allan Bayat; Guillem de Valles‐Ibáñez; Manuela Pendziwiat; Alexej Knaus; Kerstin Alt; Elisa Biamino; Annette Bley; Sophie Calvert; Patrick Carney; Alfonso Caro‐Llopis; Berten Ceulemans; Janice Cousin; Suzanne Davis; Vincent des Portes; Patrick Edery; Eleina England; Carlos Ferreira; Jeremy Freeman; Blanca Gener; Magali Gorce; Delphine Heron; Michael S. Hildebrand; Aleksandra Jezela‐Stanek; Pierre‐Simon Jouk; Boris Keren; Katja Kloth; Gerhard Kluger; Marius Kuhn; Johannes R. Lemke; Hong Li; Francisco Martinez; Caroline Maxton; Heather C. Mefford; Giuseppe Merla; Hanna Mierzewska; Alison Muir; Sandra Monfort; Joost Nicolai; Jennifer Norman; Gina O'Grady; Barbara Oleksy; Carmen Orellana; Laura Elena Orec; Charlotte Peinhardt; Ewa Pronicka; Monica Rosello; Fernando Santos‐Simarro; Eva Maria Christina Schwaibold; Alexander P. A. Stegmann; Constance T. Stumpel; Elzbieta Szczepanik; Iwona Terczyńska; Julien Thevenon; Andreas Tzschach; Patrick Van Bogaert; Roberta Vittorini; Sonja Walsh; Sarah Weckhuysen; Barbara Weissman; Lynne Wolfe; Alexandre Reymond; Pasquelena De Nittis; Annapurna Poduri; Heather Olson; Pasquale Striano; Gaetan Lesca; Ingrid E. Scheffer; Rikke S. Møller; Lynette G. Sadleir
Epilepsia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, M S, Jezela-Stanek, A, Jouk, P S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, J R, Li, H, Martinez, F, Maxton, C, Mefford, H C, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, L E, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, E M C, Stegmann, A P A, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, I E, Møller, R S & Sadleir, L G 2022, ' PIGN encephalopathy : Characterizing the epileptology ', Epilepsia, vol. 63, no. 4, pp. 974-991 . https://doi.org/10.1111/epi.17173
Academic Journal
Amelie T. van der Ven; Jessika Johannsen; Fanny Kortüm; Matias Wagner; Konstantinos Tsiakas; Tatjana Bierhals; Davor Lessel; Theresia Herget; Katja Kloth; Jasmin Lisfeld; Tasja Scholz; Nadia Obi; Saskia Wortmann; Holger Prokisch; Christian Kubisch; Jonas Denecke; René Santer; Maja Hempel
Clin. Genet., DOI: 10.1111/cge.14061 (2021)
Academic Journal
Margot A. Cousin; Blake A. Creighton; Keith A. Breau; Rebecca C. Spillmann; Erin Torti; Sruthi Dontu; Swarnendu Tripathi; Deepa Ajit; Reginald J. Edwards; Simone Afriyie; Julia C. Bay; Kathryn M. Harper; Alvaro A. Beltran; Lorena J. Munoz; Liset Falcon Rodriguez; Michael C. Stankewich; Richard E. Person; Yue Si; Elizabeth A. Normand; Amy Blevins; Alison S. May; Louise Bier; Vimla Aggarwal; Grazia M. S. Mancini; Marjon A. van Slegtenhorst; Kirsten Cremer; Jessica Becker; Hartmut Engels; Stefan Aretz; Jennifer J. MacKenzie; Eva Brilstra; Koen L. I. van Gassen; Richard H. van Jaarsveld; Renske Oegema; Gretchen M. Parsons; Paul Mark; Ingo Helbig; Sarah E. McKeown; Robert Stratton; Benjamin Cogne; Bertrand Isidor; Pilar Cacheiro; Damian Smedley; Helen V. Firth; Tatjana Bierhals; Katja Kloth; Deike Weiss; Cecilia Fairley; Joseph T. Shieh; Amy Kritzer; Parul Jayakar; Evangeline Kurtz-Nelson; Raphael A. Bernier; Tianyun Wang; Evan E. Eichler; Ingrid M. B. H. van de Laar; Allyn McConkie-Rosell; Marie T. McDonald; Jennifer Kemppainen; Brendan C. Lanpher; Laura E. Schultz-Rogers; Lauren B. Gunderson; Pavel N. Pichurin; Grace Yoon; Michael Zech; Robert Jech; Juliane Winkelmann; Adriana S. Beltran; Michael T. Zimmermann; Brenda Temple; Sheryl S. Moy; Eric W. Klee; Queenie K.-G. Tan; Damaris N. Lorenzo
Nat Genet
Nat. Genet. 53, 1006-1021 (2021)
Nat. Genet. 53, 1006-1021 (2021)
Academic Journal
Konrad Reinshagen; Katja Kloth; Stefan Klohs; Jasmin Bhullar; Michael Boettcher; Maja Hempel; Julian Trah
European Journal of Pediatric Surgery. 32:316-320
Academic Journal
Monatsschrift Kinderheilkunde. 173:138-141
Academic Journal
Theodore G. Drivas; Dong Li; Divya Nair; Joseph T. Alaimo; Mariëlle Alders; Janine Altmüller; Tahsin Stefan Barakat; E. Martina Bebin; Nicole L. Bertsch; Patrick R. Blackburn; Alyssa Blesson; Arjan M. Bouman; Knut Brockmann; Perrine Brunelle; Margit Burmeister; Gregory M. Cooper; Jonas Denecke; Anne Dieux-Coëslier; Holly Dubbs; Alejandro Ferrer; Danna Gal; Lauren E. Bartik; Lauren B. Gunderson; Linda Hasadsri; Mahim Jain; Catherine Karimov; Beth Keena; Eric W. Klee; Katja Kloth; Baiba Lace; Marina Macchiaiolo; Julien L. Marcadier; Jeff M. Milunsky; Melanie P. Napier; Xilma R. Ortiz-Gonzalez; Pavel N. Pichurin; Jason Pinner; Zoe Powis; Chitra Prasad; Francesca Clementina Radio; Kristen J. Rasmussen; Deborah L. Renaud; Eric T. Rush; Carol Saunders; Duygu Selcen; Ann R. Seman; Deepali N. Shinde; Erica D. Smith; Thomas Smol; Lot Snijders Blok; Joan M. Stoler; Sha Tang; Marco Tartaglia; Michelle L. Thompson; Jiddeke M. van de Kamp; Jingmin Wang; Dagmar Weise; Karin Weiss; Rixa Woitschach; Bernd Wollnik; Huifang Yan; Elaine H. Zackai; Giuseppe Zampino; Philippe Campeau; Elizabeth Bhoj
Eur J Hum Genet
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, 'A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431. https://doi.org/10.1038/s41431-020-0654-4
Paediatrics Publications
Academic Journal
Journal of Neurochemistry. 155:250-263
Academic Journal
Anna Worthmann; Julius Ridder; Sharlaine Y. L. Piel; Ioannis Evangelakos; Melina Musfeldt; Hannah Voß; Marie O’Farrell; Alexander W. Fischer; Sangeeta Adak; Monica Sundd; Hasibullah Siffeti; Friederike Haumann; Katja Kloth; Tatjana Bierhals; Markus Heine; Paul Pertzborn; Mira Pauly; Julia-Josefine Scholz; Suman Kundu; Marceline M. Fuh; Axel Neu; Klaus Tödter; Maja Hempel; Uwe Knippschild; Clay F. Semenkovich; Hartmut Schlüter; Joerg Heeren; Ludger Scheja; Christian Kubisch; Christian Schlein
Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Academic Journal
Sina Renner; Helke Schüler; Malik Alawi; Verena Kolbe; Meike Rybczynski; Rixa Woitschach; Sara Sheikhzadeh; Veronika C. Stark; Jakob Olfe; Elke Roser; Friederike Sophia Seggewies; Adrian Mahlmann; Maja Hempel; Melanie J. Hartmann; Mathias Hillebrand; Dagmar Wieczorek; Alexander Erich Volk; Katja Kloth; Margarete Koch-Hogrebe; Rami Abou Jamra; Diana Mitter; Janine Altmüller; Alexandra Wey-Fabrizius; Christine Petersen; Isabella Rau; Guntram Borck; Christian Kubisch; Thomas S. Mir; Yskert von Kodolitsch; Kerstin Kutsche; Georg Rosenberger
Genetics in Medicine. 21:1832-1841
Academic Journal
Katja Kloth; Sina Renner; Gunter Burmester; Doris Steinemann; Brigitte Pabst; Birgit Lorenz; Ronald Simon; Verena Kolbe; Maja Hempel; Georg Rosenberger
Clinical Genetics. 96:85-90
Academic Journal
Katja Kloth; Tatjana Bierhals; Jessika Johannsen; Frederike L. Harms; Jane Juusola; Mark C. Johnson; Dorothy K. Grange; Kerstin Kutsche
Human Genetics. 138:625-634
Academic Journal
Christian Schlein; Anna Worthmann; Sharlaine Piel; Alexander Fischer; Marie O'Farell; Sangeeta Adak; Katja Kloth; Monica Sundd; Hasibullah Siffeti; Melina Musfeldt; Tatjana Bierhals; Markus Heine; Mira Pauly; Friederike Haumann; Suman Kundu; Manka Fuh; Axel Neu; Carine Beysen; Paul Pertzborn; Hartmut Schlüter; Uwe Knippschild; Klaus Tödter; Maja Hempel; Clay Semenkovich; Joerg Heeren; Ludger Scheja; Christian Kubisch
Academic Journal
Jun Li; Martina Koch; Kathrin Kramer; Katja Kloth; Abdel Rahman Abu Ganim; Silke Scheidat; Franz Rinninger; Friedrich Thaiss; Amit Gulati; Uta Herden; Eike Achilles; Lutz Fischer; Bjoern Nashan
Transplant Immunology. 50:26-33
Academic Journal
Véronique Geoffroy; Corinne Stoetzel; Sophie Scheidecker; Elise Schaefer; Isabelle Perrault; Séverine Bär; Ariane Kröll; Marion Delbarre; Manuela Antin; Anne-Sophie Leuvrey; Charline Henry; Hélène Blanché; Eva Decker; Katja Kloth; Günter Klaus; Christoph Mache; Dominique Martin-Coignard; Steven McGinn; Anne Boland; Jean-François Deleuze; Sylvie Friant; Sophie Saunier; Jean-Michel Rozet; Carsten Bergmann; Hélène Dollfus; Jean Muller
Human Mutation. 39:983-992
Academic Journal
Margot A. Cousin; Keith A. Breau; Blake A. Creighton; Rebecca C. Spillmann; Erin Torti; Sruthi Dontu; Swarnendu Tripathi; Deepa Ajit; Kathryn M. Harper; Michael C. Stankewich; Richard E. Person; Yue Si; Elizabeth A. Normand; Amy Blevins; Alison S. May; Louise Bier; Vimla Aggarwal; Grazia M. S. Mancini; Marjon A. van Slegtenhorst; Kirsten Cremer; Jessica Becker; Hartmut Engels; Stefan Aretz; Jennifer J. MacKenzie; Eva Brilstra; Koen L. I. van Gassen; Richard H. van Jaarsveld; Renske Oegema; Gretchen M. Parsons; Paul Mark; Ingo Helbig; Sarah E. McKeown; Robert Stratton; Benjamin Cogne; Bertrand Isidor; Pilar Cacheiro; Damian Smedley; Helen V. Firth; Tatjana Bierhals; Katja Kloth; Deike Weiss; Cecilia Fairley; Joseph T. Shieh; Amy Kritzer; Parul Jayakar; Evangeline Kurtz-Nelson; Raphael Bernier; Tianyun Wang; Evan E. Eichler; Ingrid M.B.H. van de Laar; Allyn McConkie-Rosell; Marie McDonald; Jennifer Kemppainen; Brendan C. Lanpher; Laura E. Schultz-Rogers; Lauren B. Gunderson; Pavel N. Pichurin; Grace Yoon; Michael Zech; Robert Jech; Juliane Winkelmann; Michael T. Zimmermann; Brenda Temple; Sheryl S. Moy; Eric W. Klee; Queenie K.-G. Tan; Damaris N. Lorenzo
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