학술논문
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'학술논문'
에서 검색결과 417건 | 목록
1~20
Academic Journal
Maini I.; Errichiello E.; Caraffi S. G.; Rosato S.; Bizzarri V.; Pollazzon M.; Trimarchi G.; Contro G.; Cavirani B.; Gelmini C.; Napoli M.; Moratti C.; Pascarella R.; Rizzi S.; Fusco C.; Zuffardi O.; Garavelli L.
neurogenetics. 22:19-25
Academic Journal
Cuckle H; Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.
Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print Cited Medium: Internet ISSN: 1469-0705 (Electronic) Linking ISSN: 09607692 NLM ISO Abbreviation: Ultrasound Obstet Gynecol Subsets: MEDLINE
Academic Journal
Guangjin, L.; Jing, Z.; Xiao, D.; Jun, C.; Lijiang, W.; Aiyun, Y.; Mei, H.; Xuan, Z.; Xiao, C.; Lihua, W.
In: Chinese Journal of Neurology . (Chinese Journal of Neurology, January 2024, 57(1):47-53)
Academic Journal
Peyrard-Janvid, Myriam; Leslie, Elizabeth J.; Kousa, Youssef A.; Smith, Tiffany L.; Dunnwald, Martine; Magnusson, Måns; Lentz, Brian A.; Unneberg, Per; Fransson, Ingegerd; Koillinen, Hannele K.; Rautio, Jorma; Pegelow, Marie; Karsten, Agneta; Basel-Vanagaite, Lina; Gordon, William; Andersen, Bogi; Svensson, Thomas; Murray, Jeffrey C.; Cornell, Robert A.; Kere, Juha; Schutte, Brian C.
American Journal of Human Genetics. 94(1):23-32
Academic Journal
Haynes D; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.; Pollack L; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.; Prasad C; Department of Pediatrics and Medical Genetics Program of Southwest Ontario, London Health Sciences Centre, London, Ontario, Canada.; Goobie S; Department of Paediatrics (Section of Genetics), Western University London, Ontario, Canada.; Colaiacovo S; Department of Pediatrics and Medical Genetics Program of Southwest Ontario, London Health Sciences Centre, London, Ontario, Canada.; Wolfinger T; Division of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.; Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Parisa Hemati; Anya Revah‐Politi; Haim Bassan; Slavé Petrovski; Colleen G. Bilancia; Keri Ramsey; Nicole G. Griffin; Louise Bier; Megan T. Cho; Monica Rosello; Sally Ann Lynch; Sophie Colombo; Astrid Weber; Marte Haug; Erin L. Heinzen; Tristan T. Sands; Vinodh Narayanan; Michelle Primiano; Vimla S. Aggarwal; Francisca Millan; Shannon G. Sattler‐Holtrop; Alfonso Caro‐Llopis; Nir Pillar; Janice Baker; Rebecca Freedman; Hester Y. Kroes; Stephanie Sacharow; Nick Stong; Pablo Lapunzina; Michael C. Schneider; Nancy J. Mendelsohn; Amanda Singleton; Valerie Loik Ramey; Karen Wou; Alla Kuzminsky; Sandra Monfort; Monika Weisz Hubshman; Samantha Doyle; Alejandro Iglesias; Francisco Martinez; Fiona Mckenzie; Carmen Orellana; Koen L.I. van Gassen; Maria Palomares; Lily Bazak; Andy Lee; Ana Bircher; Lina Basel‐Vanagaite; Maria Hafström; Gunnar Houge; David B. Goldstein; Kwame Anyane‐Yeboa
American Journal of Medical Genetics Part A. 176:2259-2275
Academic Journal
Piao, Xianhua; Hill, R. Sean; Bodell, Adria; Chang, Bernard S.; Basel-Vanagaite, Lina; Straussberg, Rachel; Dobyns, William B.; Qasrawi, Bassam; Winter, Robin M.; Innes, A. Micheil; Voit, Thomas; Ross, M. Elizabeth; Michaud, Jacques L.; Déscarie, Jean-Claude; Barkovich, A. James; Walsh, Christopher A.
Science, 2004 Mar . 303(5666), 2033-2036.
Academic Journal
R Solomon-Zemler; L Basel-Vanagaite; D Steier; S Yakar; E Mel; M Phillip; L Bazak; D Bercovich; H Werner; L de Vries
Endocr Connect
Endocrine Connections, Vol 6, Iss 6, Pp 395-403 (2017)
Endocrine Connections, Vol 6, Iss 6, Pp 395-403 (2017)
Academic Journal
I. Maya; S. Yacobson; S. Kahana; J. Yeshaya; T. Tenne; I. Agmon‐Fishman; L. Cohen‐Vig; M. Shohat; L. Basel‐Vanagaite; R. Sharony
Ultrasound in Obstetrics & Gynecology. 50:332-335
Academic Journal
I, Maya; S, Kahana; J, Yeshaya; T, Tenne; S, Yacobson; I, Agmon-Fishman; L, Cohen-Vig; A, Levi; E, Reinstein; L, Basel-Vanagaite; R, Sharony
Ultrasound in Obstetrics & Gynecology. 49:337-341
Academic Journal
Shyam K. Akula; Allen Y. Chen; Jennifer E. Neil; Diane D. Shao; Alisa Mo; Norma K. Hylton; Stephanie DiTroia; Vijay S. Ganesh; Richard S. Smith; Katherine O’Kane; Rebecca C. Yeh; Jack H. Marciano; Samantha Kirkham; Connor J. Kenny; Janet H. T. Song; Muna Al Saffar; Francisca Millan; David J. Harris; Andrea V. Murphy; Kara C. Klemp; Stephen R. Braddock; Harrison Brand; Isaac Wong; Michael E. Talkowski; Anne O’Donnell-Luria; Abbe Lai; Robert Sean Hill; Ganeshwaran H. Mochida; Ryan N. Doan; A. James Barkovich; Edward Yang; Dina Amrom; Eva Andermann; Annapurna Poduri; Christopher A. Walsh; Bassam Abu-Libdeh; Lihadh Al-Gazali; Edith Alva Moncayo; Eva Anderman; Anna-Kaisa Anttonen; Saunder Barnes; Sara Barnett; Todd Barron; Brenda J. Barry; Lina Basel-Vanagaite; Laila Bastaki; Luis Bello-Espinosa; Tawfeg Ben-Omran; Matthew Bernard; Carsten G. Bonneman; Blaise Bourgeois; Stephen Brown; Roberto H. Caraballo; Gergory Cascino; Michael Clarke; Monika Cohen; Yanick Crow; Bernard Dan; Kira A. Dies; William B. Dobyns; François Dubeau; Christelle El Achkar; Gregory M. Enns; Laurence Faivre; Laura Flores-Sarnat; John Gaitanis; Kuchukhidze Giorgi; Andrew Green; Alan Guberman; Renzo Guerrini; Micheil Innes; Richard Jacobsen; Sebastian Jacquemont; Samir Khalil; Joerg Klepper; Dimitri Kranic; Kalpathy Krishnamoorthy; Anna-Elina Lehesjoki; Dorit Lev; Richard J. Leventer; Emily Lisi; Valerie Loik Ramey; Sally Ann Lynch; Laila Mahmoud; David Manchester; David Mandelbaum; Daphna Marom; Deborah Marsden; Mayra Martinez Ojeda; Amira Masri; Livija Medne; Denis Melanson; David T. Miller; Anna Minster; Edward Neilan; Dang Khoa Nguyen; Heather E. Olson; Ignacio Pascual-Castroviejo; Philip L. Pearl; Daniela Pilz; Nada Quercia; Salmo Raskin; Miriam Regev; Lance Rodan; Cynthia Rooney; Michael Rutlin; Mustafa Sahin; Mustafa A. Salih; Pierre Sarda; Harvey B. Sarnat; Ingrid Scheffer; Joseph Shieh; Sharon E. Smith; Janet S. Soul; Siddharth Srivastava; Laszlo Sztriha; Donatella Tampieri; John Tolmie; Meral Topçu; Eugen Trinka; John Tsai; Jack Tsao; Sheila Unger; Iris Unterberger; Goekhan Uyanik; Kette Valente; Thomas Voit; Louise Wilson; Grace Yoon
JAMA Neurol
Academic Journal
G, Borck; L, Rainshtein; S, Hellman-Aharony; A E, Volk; K, Friedrich; E, Taub; N, Magal; M, Kanaan; C, Kubisch; M, Shohat; L, Basel-Vanagaite
Clinical Genetics. 82:271-276
Academic Journal
Clinical Genetics. 89:557-563
Academic Journal
Abu-Rashid, M. ; Mahajnah, M. ; Jaber, L. ; Kornreich, L. ; Bar-On, E. ; Basel-Vanagaite, L. ; Soffer, D. ; Koenig, M. ; Straussberg, R.
In European Journal of Paediatric Neurology May 2013 17(3):259-264
Academic Journal
Namavar, Yasmin; Barth, Peter G; Kasher, Paul R; van Ruissen, Fred; Brockmann, Knut; Bernert, Günther; Writzl, Karin; Ventura, Karen; Cheng, Edith Y; Ferriero, Donna M; Basel-Vanagaite, Lina; Eggens, Veerle R C; Krägeloh-Mann, Ingeborg; De Meirleir, Linda; King, Mary; Graham, John M; von Moers, Arpad; Knoers, Nine; Sztriha, Laszlo; Korinthenberg, Rudolf; Dobyns, William B; Baas, Frank; Poll-The, Bwee Tien; Van der Aa, Nathalie; Arts, Willem F M; Ades, Lesley C; Bahi-Buisson, Nadia; Battini, Roberta; Bodamer, Olaf; Boltshauser, Eugen; Boycott, Kym; Brueton, Louise; Brussel, Wim; Chandler, K E; Cowan, Frances M; Crow, Yanick; Debus, Otfried; Demir, Ercan; Hastanesi, Gazi; Eason, Jacqueline; Ferrie, Colin D; Fisher, Richard B; Foulds, Nicola; Freeman, Jeremy L; Gooskens, Rob; Haeussler, Martin; Hageman, Gerard; Hammersen, Gerhard; Horn, Denise; Isidor, Bertrand; van der Knaap, Marjo S; Kress, Wolfram; Kroisel, Peter M; Kyllerman, Mårten; Lachmeijer, A M A; Lunsing, Roelineke J; McGillivray, George; Möllmann, Susanne; Muntoni, Francesco; Nemeth, Andrea H; Neufeld-Kaiser, Whitney; van Nieuwenhuizen, Onno; Ouvrier, Robert; Pálmafy, Beatrix; Peeters, E A J; Phillips, Joanna J; Price, Susan; Rankin, Julia; Régal, Luc; de Rijk-van Andel, J F; Roelens, Filip; Rutledge, Joe C; Ryan, Monique M; Seidl, Rainer; Sellerer, Nina C; Shannon, Nora L; Sival, Deborah A; Snoeck, I N; Straussberg, Rachel; Tijssen, Marina A J; Verloo, Patrick; de Vries, L S; Wargowski, David; Williams, Andrew N; Windpassinger, Christian
Namavar, Y, Barth, P G, Kasher, P R, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, E Y, Ferriero, D M, Basel -Vanagaite , L , Eggens, V R, Krägeloh-Mann, I, De Meirleir, L , King, M, Graham Jr., J M, von Moers, A, Knoers, N, Sztriha, L , Korinthenberg, R, van der Knaap, M S, Dobyns, W B, Baas, F & Poll-The, B T 2011, 'Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia', Brain, vol. 134, pp. 143-156. https://doi.org/10.1093/brain/awq287
Namavar, Y, Barth, P G, Kasher, P R, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, E Y, Ferriero, D M,Basel -Vanagaite , L , Eggens, V R C, Krägeloh-Mann, I, De Meirleir, L , King, M, Graham, J M, von Moers, A, Knoers, N, Sztriha, L , Korinthenberg, R, Dobyns, W B, Baas, F, Poll-The, B T, Van der Aa, N, Arts, W F M, Ades, L C, Bahi-Buisson, N, Battini, R, Bodamer, O, Boltshauser, E, Boycott, K, Brueton, L , Brussel, W, Chandler, K E, Cowan, F M, Crow, Y, Debus, O, Demir, E, Hastanesi, G, Eason, J, Ferrie, C D, Fisher, R B, Foulds, N, Freeman, J L , Gooskens, R, Haeussler, M, Hageman, G, Hammersen, G, Horn, D, Isidor, B, van der Knaap, M S, Kress, W, Kroisel, P M, Kyllerman, M, Lachmeijer, A M A, Lunsing, R J, McGillivray, G, Möllmann, S, Muntoni, F, Nemeth, A H, Neufeld-Kaiser, W, van Nieuwenhuizen, O, Ouvrier, R, Pálmafy, B, Peeters, E A J, Phillips, J J, Price, S, Rankin, J, Régal, L , de Rijk-van Andel, J F, Roelens, F, Rutledge, J C, Ryan, M M, Seidl, R, Sellerer, N C, Shannon, N L , Sival, D A, Snoeck, I N, Straussberg, R, Tijssen, M A J, Verloo, P, de Vries, L S, Wargowski, D, Williams, A N & Windpassinger, C 2011, 'Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.', Brain : a journal of neurology, vol. 134, no. Pt 1. https://doi.org/10.1093/brain/awq287
Namavar, Y, Barth, P G, Kasher, P R, van Ruissen, F, Brockmann, K, Bernert, G, Writzl, K, Ventura, K, Cheng, E Y, Ferriero, D M,
Academic Journal
Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E.C.; Abuelo, D.N.; Adamowicz, M.; Al-Aama, J.Y.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M.T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Turkmen, S.; Tuysuz, B.; Yuksel-Konuk, B.; Mundlos, S.; van Maldergem, L.; Wevers, R.A.; Urban, Z.
Human Molecular Genetics, 18, 12, pp. 2149-65
Academic Journal
Zou L; Hefei Maternal and Child Health Hospital Reproductive Medicine Center, Hefei, China.; Qiu R; Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, VIC, Australia.; Dai Z; Hefei Maternal and Child Health Hospital Reproductive Medicine Center, Hefei, China.; Li Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, China.; Liao Y; Department of Basic Medicine, School of Medicine, Jingchu University of Technology, Jingmen, China.; Zhou Y; Department of Basic Medicine, School of Medicine, Jingchu University of Technology, Jingmen, China.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Handley, TW; Morris-Rosendahl, DJ; Brown, S; Macdonald, F; Hardy, C; Bem, D; Carpanini, SM; Borck, G; Martorell, L; Izzi, C; Faravelli, F; Accorsi, P; Pinelli, L; Basel-Vanagaite, L; Peretz, G; Abdel-Salam, GMH; Zaki, MS; Jansen, A; Mowat, DR; Glass, IA; Stewart, H; Mancini, GMS; Lederer, D; Roscioli, T; Giuliano, F; Plomp, AS; Rolfs, A; Graham, JM; Seemanova, E; Poo, P; Garcia-Cazorla, A; Edery, P; Jackson, IJ; Aligianis, IA; Maher, ER
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Academic Journal
Gordon CT; Vuillot A; Marlin S; Gerkes E; Henderson A; AlKindy A; Holder-Espinasse M; Park SS; Omarjee A; Sanchis-Borja M; Ben Bdira E; Oufadem M; Sikkema-Raddatz B; Stewart A; Palmer R; McGowan R; Petit F; Delobel B; Speicher MR; Aurora P; Kilner D; Pellerin P; Simon M; Bonnefont JP; Tobias ES; Garcia-Minaur S; Bitner-Glindzicz M; Lindholm P; Meijer BA; Abadie V; Denoyelle F; Vazquez MP; Rotky-Fast C; Couloigner V; Pierrot S; Manach Y; Breton S; Hendriks YMC; Munnich A; Jakobsen L; Kroisel P; Lin A; Kaban LB; Basel-Vanagaite L; Wilson L; Cunningham ML; Lyonnet S; Amiel J
Gordon, C T, Vuillot, A, Marlin, S, Gerkes, E, Henderson, A, AlKindy, A, Holder-Espinasse, M, Park, S S, Omarjee, A, Sanchis-Borja, M, Ben Bdira, E, Oufadem, M, Sikkema-Raddatz, B, Stewart, A, Palmer, R, McGowan, R, Petit, F, Delobel, B, Speicher, M R, Aurora, P, Kilner, D, Pellerin, P, Simon, M, Bonnefont, J P, Tobias, E S, Garcia-Minaur, S, Bitner-Glindzicz, M, Lindholm, P, Meijer, B A, Abadie, V, Denoyelle, F, Vazquez, M P, Rotky-Fast, C, Couloigner, V, Pierrot, S, Manach, Y, Breton, S, Hendriks, Y M C, Munnich, A, Jakobsen, L , Kroisel, P, Lin, A, Kaban, L B, Basel -Vanagaite , L , Wilson, L , Cunningham, M L , Lyonnet, S & Amiel, J 2013, 'Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome', Journal of Medical Genetics, vol. 50, no. 3, pp. 174-186. https://doi.org/10.1136/jmedgenet-2012-101331
Academic Journal
M, Balasubramanian; K, Smith; L, Basel-Vanagaite; M F, Feingold; P, Brock; G C, Gowans; P C, Vasudevan; L, Cresswell; E J, Taylor; C J, Harris; N, Friedman; R, Moran; H, Feret; E H, Zackai; A, Theisen; J A, Rosenfeld; M J, Parker
Journal of Medical Genetics. 48:290-298
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[검색어] Basel-Vanagaite, L
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