학술논문
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'학술논문'
에서 검색결과 20건 | 목록
1~20
Academic Journal
Marie Moldt Holmager; Sarah Wordenskjold Stougaard; Ole Graumann; Marianne Præstegaard; Lilian Bomme Ousager; Lars Lund; Annette Schuster; Casper Falster; Jesper Rømhild Davidsen
European Clinical Respiratory Journal, Vol 12, Iss 1 (2025)
Academic Journal
Cagla Margit Øzdemir; Mette Mølby Nielsen; Jani Liimatta; Clarissa D Voegel; Rawda Naamneh Elzenaty; Victor S Wasehuus; Marie Lind-Holst; Marie Juul Ornstrup; Stine Bjørn Gram; Lilian Bomme Ousager; Christa E Flück; Claus H Gravholt
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-8 (2024)
Academic Journal
Alistair T. Pagnamenta; Carme Camps; Edoardo Giacopuzzi; John M. Taylor; Mona Hashim; Eduardo Calpena; Pamela J. Kaisaki; Akiko Hashimoto; Jing Yu; Edward Sanders; Ron Schwessinger; Jim R. Hughes; Gerton Lunter; Helene Dreau; Matteo Ferla; Lukas Lange; Yesim Kesim; Vassilis Ragoussis; Dimitrios V. Vavoulis; Holger Allroggen; Olaf Ansorge; Christian Babbs; Siddharth Banka; Benito Baños-Piñero; David Beeson; Tal Ben-Ami; David L. Bennett; Celeste Bento; Edward Blair; Charlotte Brasch-Andersen; Katherine R. Bull; Holger Cario; Deirdre Cilliers; Valerio Conti; E. Graham Davies; Fatima Dhalla; Beatriz Diez Dacal; Yin Dong; James E. Dunford; Renzo Guerrini; Adrian L. Harris; Jane Hartley; Georg Hollander; Kassim Javaid; Maureen Kane; Deirdre Kelly; Dominic Kelly; Samantha J. L. Knight; Alexandra Y. Kreins; Erika M. Kvikstad; Craig B. Langman; Tracy Lester; Kate E. Lines; Simon R. Lord; Xin Lu; Sahar Mansour; Adnan Manzur; Reza Maroofian; Brian Marsden; Joanne Mason; Simon J. McGowan; Davide Mei; Hana Mlcochova; Yoshiko Murakami; Andrea H. Németh; Steven Okoli; Elizabeth Ormondroyd; Lilian Bomme Ousager; Jacqueline Palace; Smita Y. Patel; Melissa M. Pentony; Chris Pugh; Aboulfazl Rad; Archana Ramesh; Simone G. Riva; Irene Roberts; Noémi Roy; Outi Salminen; Kyleen D. Schilling; Caroline Scott; Arjune Sen; Conrad Smith; Mark Stevenson; Rajesh V. Thakker; Stephen R. F. Twigg; Holm H. Uhlig; Richard van Wijk; Barbara Vona; Steven Wall; Jing Wang; Hugh Watkins; Jaroslav Zak; Anna H. Schuh; Usha Kini; Andrew O. M. Wilkie; Niko Popitsch; Jenny C. Taylor
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
Ole Magnus Bjorgaas Helle; Torkild Høieggen Pedersen; Lilian Bomme Ousager; Mads Thomassen; Jens Michael Hertz
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Academic Journal
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Academic Journal
Ingemar Björkhem; Ulf Diczfalusy; Anita Lövgren-Sandblom; Lena Starck; Monica Jonsson; Keri Tallman; Henrik Schirmer; Lilian Bomme Ousager; Peter J. Crick; Yuqin Wang; William J. Griffiths; F. Peter Guengerich
Journal of Lipid Research, Vol 55, Iss 6, Pp 1165-1172 (2014)
Academic Journal
Pernille M Tørring; Martin Jakob Larsen; Anette D Kjeldsen; Lilian Bomme Ousager; Qihua Tan; Klaus Brusgaard
PLoS ONE, Vol 9, Iss 3, p e90272 (2014)
Academic Journal
Anne Marie Jelsig; Laus Wullum; Tine Plato Kuhlmann; Lilian Bomme Ousager; Johan Burisch; John Gásdal Karstensen
United European Gastroenterol J
Jelsig, A M, Wullum, L, Kuhlmann, T P, Ousager, L B, Burisch, J & Karstensen, J G 2023, ' Cancer risk and mortality in patients with solitary juvenile polyps — A nationwide cohort study with matched controls ', United European Gastroenterology Journal, vol. 11, no. 8, pp. 745-749 . https://doi.org/10.1002/ueg2.12441
Jelsig, A M, Wullum, L, Kuhlmann, T P, Ousager, L B, Burisch, J & Karstensen, J G 2023, ' Cancer risk and mortality in patients with solitary juvenile polyps — A nationwide cohort study with matched controls ', United European Gastroenterology Journal, vol. 11, no. 8, pp. 745-749 . https://doi.org/10.1002/ueg2.12441
Academic Journal
Anne Marie Jelsig; Thomas van Overeem Hansen; Lene Bjerring Gede; Niels Qvist; Lise‐Lotte Christensen; Charlotte Kvist Lautrup; Jane Hübertz Frederiksen; Lone Sunde; Lilian Bomme Ousager; Ken Ljungmann; Birgitte Bertelsen; John Gásdal Karstensen
Jelsig, A M, van Overeem Hansen, T, Gede, L B, Qvist, N, Christensen, L-L, Lautrup, C K, Frederiksen, J H, Sunde, L, Ousager, L B, Ljungmann, K, Bertelsen, B & Karstensen, J G 2023, 'Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome : A nationwide study', Clinical Genetics, vol. 104, no. 1, pp. 81-89. https://doi.org/10.1111/cge.14337
Jelsig, A M, van Overeem Hansen, T, Gede, L B, Qvist, N, Christensen, L L, Lautrup, C K, Frederiksen, J H, Sunde, L, Ousager, L B, Ljungmann, K, Bertelsen, B & Karstensen, J G 2023, ' Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome : A nationwide study ', Clinical Genetics, vol. 104, no. 1, pp. 81-89 . https://doi.org/10.1111/cge.14337
Jelsig, A M, van Overeem Hansen, T, Gede, L B, Qvist, N, Christensen, L L, Lautrup, C K, Frederiksen, J H, Sunde, L, Ousager, L B, Ljungmann, K, Bertelsen, B & Karstensen, J G 2023, ' Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome : A nationwide study ', Clinical Genetics, vol. 104, no. 1, pp. 81-89 . https://doi.org/10.1111/cge.14337
Academic Journal
Silvestre Cuinat; Mathilde Nizon; Bertrand Isidor; Alexander Stegmann; Richard H. van Jaarsveld; Koen L. van Gassen; Jasper J. van der Smagt; Catharina M.L. Volker-Touw; Sjoerd J.B. Holwerda; Paulien A. Terhal; Sarah Schuhmann; Georgia Vasileiou; Mohamed Khalifa; Alaa A. Nugud; Hemad Yasaei; Lilian Bomme Ousager; Charlotte Brasch-Andersen; Wallid Deb; Thomas Besnard; Marleen E.H. Simon; Karin Huijsdens-van Amsterdam; Nienke E. Verbeek; Dena Matalon; Natalie Dykzeul; Shana White; Elizabeth Spiteri; Koen Devriendt; Anneleen Boogaerts; Marjolein Willemsen; Han G. Brunner; Margje Sinnema; Bert B.A. De Vries; Erica H. Gerkes; Rolph Pfundt; Kosuke Izumi; Ian D. Krantz; Zhou L. Xu; Jill R. Murrell; Irene Valenzuela; Ivon Cusco; Eulàlia Rovira-Moreno; Yaping Yang; Varoona Bizaoui; Olivier Patat; Laurence Faivre; Frederic Tran-Mau-Them; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Christophe Philippe; Stéphane Bezieau; Benjamin Cogné
Genetics in Medicine, 24, 8, pp. 1774-1780
Academic Journal
Allan Bayat; Alexej Knaus; Manuela Pendziwiat; Alexandra Afenjar; Tahsin Stefan Barakat; Friedrich Bosch; Bert Callewaert; Patrick Calvas; Berten Ceulemans; Nicolas Chassaing; Christel Depienne; Milda Endziniene; Carlos R. Ferreira; Carolina Fischinger Moura de Souza; Cécile Freihuber; Shiva Ganesan; Svetlana Gataullina; Renzo Guerrini; Anne‐Marie Guerrot; Lars Hansen; Aleksandra Jezela‐Stanek; Caroline Karsenty; Anneke Kievit; Frank R. Kooy; Christian M. Korff; Johanne Kragh Hansen; Martin Larsen; Valérie Layet; Gaetan Lesca; Kim L. McBride; Marije Meuwissen; Cyril Mignot; Martino Montomoli; Hannah Moore; Sophie Naudion; Caroline Nava; Marie‐Christine Nougues; Elena Parrini; Matthew Pastore; Jurgen H. Schelhaas; Steven Skinner; Krzysztoł Szczałuba; Ashley Thomas; Mads Thomassen; Lisbeth Tranebjærg; Marjon van Slegtenhorst; Lynne A. Wolfe; Dennis Lal; Elena Gardella; Lilian Bomme Ousager; Tobias Brünger; Ingo Helbig; Peter Krawitz; Rikke S. Møller
Epilepsia
Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Stefan Barakat, T, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, C R, Moura de Souza, C F, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, F R, Korff, C M, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, K L, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, J H, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, L A, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, R S 2020, ' Lessons learned from 40 novel PIGA patients and a review of the literature ', Epilepsia, vol. 61, no. 6, pp. 1142-1155 . https://doi.org/10.1111/epi.16545
Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Stefan Barakat, T, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, C R, Moura de Souza, C F, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, F R, Korff, C M, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, K L, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, J H, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, L A, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, R S 2020, ' Lessons learned from 40 novel PIGA patients and a review of the literature ', Epilepsia, vol. 61, no. 6, pp. 1142-1155 . https://doi.org/10.1111/epi.16545
Academic Journal
Marie Moldt Holmager; Sarah Wordenskjold Stougaard; Ole Graumann; Marianne Præstegaard; Lilian Bomme Ousager; Lars Lund; Annette Schuster; Casper Falster; Jesper Rømhild Davidsen
Eur Clin Respir J
European Clinical Respiratory Journal, Vol 12, Iss 1 (2025)
Holmager, M M, Wordenskjold Stougaard, S, Graumann, O, Præstegaard, M, Ousager, L B, Lund, L, Schuster, A, Falster, C & Davidsen, J R 2025, 'Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome : a retrospective cohort study', European Clinical Respiratory Journal, vol. 12, no. 1, 2449271. https://doi.org/10.1080/20018525.2024.2449271
European Clinical Respiratory Journal, Vol 12, Iss 1 (2025)
Holmager, M M, Wordenskjold Stougaard, S, Graumann, O, Præstegaard, M, Ousager, L B, Lund, L, Schuster, A, Falster, C & Davidsen, J R 2025, 'Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome : a retrospective cohort study', European Clinical Respiratory Journal, vol. 12, no. 1, 2449271. https://doi.org/10.1080/20018525.2024.2449271
Academic Journal
Marie Westergaard-Nielsen; Tine Amstrup; Jens Højberg Wanscher; Klaus Brusgaard; Lilian Bomme Ousager
Westergaard-Nielsen, M, Amstrup, T, Wanscher, J H, Brusgaard, K & Ousager, L B 2018, ' Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation : Long term follow-up on surgical treatment ', International Journal of Pediatric Otorhinolaryngology, vol. 108, pp. 208-212 . https://doi.org/10.1016/j.ijporl.2018.03.008
Academic Journal
Anne Marie Jelsig; Laus Wullum; Tine Plato Kuhlmann; Lilian Bomme Ousager; Johan Burisch; John Gásdal Karstensen
Gastroenterology. 165:1565-1567.e2
Academic Journal
Mol Genet Genomic Med
Tørring, P M, Kjeldsen, A D, Ousager, L B & Brusgaard, K 2018, ' ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia ', Molecular Genetics & Genomic Medicine, vol. 6, no. 1, pp. 121-125 . https://doi.org/10.1002/mgg3.361
Tørring, P M, Kjeldsen, A D, Ousager, L B & Brusgaard, K 2018, ' ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia ', Molecular Genetics & Genomic Medicine, vol. 6, no. 1, pp. 121-125 . https://doi.org/10.1002/mgg3.361
Academic Journal
Marie Louise M Binderup; Maja Smerdel; Line Borgwadt; Signe Sparre Beck Nielsen; Mia Gebauer Madsen; Hans Ulrik Møller; Jens Folke Kiilgaard; Lennart Friis-Hansen; Vibeke Harbud; Søren Cortnum; Hanne Owen; Steen Gimsing; Henning Anker Friis Juhl; Sune Munthe; Marianne Geilswijk; Åse Krogh Rasmussen; Ulla Møldrup; Ole Graumann; Frede Donskov; Henning Grønbæk; Brian Stausbøl-Grøn; Ove Schaffalitzky de Muckadell; Ulrich Knigge; Gitte Dam; Karin AW. Wadt; Lars Bøgeskov; Per Bagi; Lars Lund; Kirstine Stochholm; Lilian Bomme Ousager; Lone Sunde
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K AW, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, 'von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance', European Journal of Medical Genetics, vol. 65, no. 8, 104538. https://doi.org/10.1016/j.ejmg.2022.104538
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K AW, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, 104538 . https://doi.org/10.1016/j.ejmg.2022.104538
Louise M Binderup, M, Smerdel, M, Borgwadt, L, Beck Nielsen, S S, Madsen, M G, Møller, H U, Kiilgaard, J F, Friis-Hansen, L, Harbud, V, Cortnum, S, Owen, H, Gimsing, S, Friis Juhl, H A, Munthe, S, Geilswijk, M, Rasmussen, Å K, Møldrup, U, Graumann, O, Donskov, F, Grønbæk, H, Stausbøl-Grøn, B, Schaffalitzky de Muckadell, O, Knigge, U, Dam, G, Wadt, K AW, Bøgeskov, L, Bagi, P, Lund, L, Stochholm, K, Ousager, L B & Sunde, L 2022, ' von Hippel-Lindau disease : Updated guideline for diagnosis and surveillance ', European Journal of Medical Genetics, vol. 65, no. 8, 104538 . https://doi.org/10.1016/j.ejmg.2022.104538
Stephen R.F. Twigg; Lilian Bomme Ousager; Kathryn Miller; Yi Zhou; Siham Chafai Elalaoui; Abdelaziz Sefiani; G. S. Bak; Hanne Hove; Lars Kjærsgaard Hansen; Christina Fagerberg; Mariam Tajir; Andrew O.M. Wilkie
Clin Genet
Twigg, S R F, Ousager, L B, Miller, K A, Zhou, Y, Elalaoui, S C, Sefiani, A, Bak, G S, Hove, H, Kjærsgaard Hansen, L, Fagerberg, C R, Tajir, M & Wilkie, A O M 2016, ' Acromelic frontonasal dysostosis and ZSWIM6 mutation : phenotypic spectrum and mosaicism ', Clinical Genetics, vol. 90, no. 3, pp. 270-275 . https://doi.org/10.1111/cge.12721
Twigg, S R F, Ousager, L B, Miller, K A, Zhou, Y, Elalaoui, S C, Sefiani, A, Bak, G S, Hove, H, Kjærsgaard Hansen, L, Fagerberg, C R, Tajir, M & Wilkie, A O M 2016, ' Acromelic frontonasal dysostosis and ZSWIM6 mutation : phenotypic spectrum and mosaicism ', Clinical Genetics, vol. 90, no. 3, pp. 270-275 . https://doi.org/10.1111/cge.12721
Chelsea Lowther; Mana M. Mehrjouy; Ryan L. Collins; Mads Bak; Olga Dudchenko; Harrison Brand; Huilin Wang; Malene B. Rasmussen; Huiya Gu; David Weisz; Lusine Nazaryan‐Petersen; Amanda S. Fjorder; Yuan Mang; Allan Lind-Thomsen; J M Medina; Xabier Calle; Anuja Chopra; Claus Hansen; Merete Bugge; Roeland Broekema; Teppo Varilo; Tiia Maria Luukkonen; J.J.M. Engelen; Angela Maria Vianna‐Morgante; Ana Carolina Fonseca; Juliana F. Mazzeu; Halinna Dornelles-Wawruk; Kikue Terada Abe; Jean‐Pierre Fryns; Kris Van Den Bogaert; Carolina Sismani; Constantia Aristidou; Paola Evangelidou; Albert Schinzel; Damien Sanlaville; Caroline Schluth‐Bolard; Vera M. Kalscheuer; Maren Wenzel; Hyung‐Goo Kim; Katrin Õunap; Laura Roht; Susanna Midyan; María Clara Bonaglia; Anna Lindstrand; Jesper Eisfeldt; Jesper Ottosson; Daniel Nilsson; Maria Pettersson; Elenice Ferreira Bastos; Evica Rajcan‐Separovic; Fatma Sılan; Frenny Sheth; Antonio Novelli; Eirik Frengen; Madeleine Fannemel; Petter Strømme; Nadja Kokalj Vokač; Cornelia Daumer‐Haas; Danilo Moretti‐Ferreira; Deise Helena de Souza; María A. Ramos-Arroyo; Maria M. Igoa; Lyudmila Angelova; Peter M. Kroisel; Graciela del Rey; Társis Paiva Vieira; Martha Lewis; Hao Wang; Jana Drabova; Markéta Havlovičová; Miroslava Hančárová; Zdeněk Sedláček; Ida Vogel; Tina Duelund Hjortshøj; Rikke S. Møller; Zeynep Tümer; Christina Fagerberg; Lilian Bomme Ousager; Bitten Schönewolf‐Greulich; Mathilde Lauridsen; Juliette Piard; Céline Pebrel‐Richard; Sylvie Jaillard; Nadja Ehmke; Eunice G. Stefanou; Czakó Marta; Kosztolányi György; Ashwin Dalal; Usha R. Dutta; Rashmi Shukla; Fortunato Lonardo; Orsetta Zuffardi; Gunnar Houge; Doriana Misceo; Shahid Mahmood Baig; Alina T. Midro; Natalia Wawrusiewicz‐Kurylonek; Isabel M. Carreira; Joana Barbosa Melo; Laura Rodriguez Martinez
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