학술논문


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'학술논문' 에서 검색결과 17건 | 목록 1~20
Academic Journal
Dekker, JordySchot, RachelAldinger, Kimberly A.Everman, David B.Washington, CamerunJones, Julie R.Sullivan, Jennifer A.Spillmann, Rebecca C.Shashi, VandanaVitobello, AntonioDenommé-Pichon, Anne-SophieMosca-Boidron, Anne-LaurePerrin, LaurenceAuvin, StéphaneZaki, Maha S.Gleeson, Joseph G.Meave, NaomiWallace, CassidyNambot, SophieDelanne, JulianRuggiero, Sarah M.Helbig, IngoFitzgerald, Mark P.Leventer, Richard J.Grange, Dorothy K.Argilli, EmanuelaSherr, Elliott H.Prakash, SuprajaNeilson, Derek E.Nicita, FrancescoSferra, AntonellaBertini, Enrico S.Aiello, ChiaraBrockmann, KnutKuranov, Alexander B.Kaulfuss, SilkeBasit, SulmanAlluqmani, MajedAlmatrafi, AhmadFriedman, Jan M.Guimond, ColleenMohammed, FaruqSharma, PoojaGoel, DivyaWirth, ThomasAnheim, MathieuBahena, PaulinaKoparir, AsumanKolokotronis, KonstantinosVona, BarbaraHaaf, ThomasKunstmann, ErdmuteMaroofian, RezaSczakiel, Henrike L.Boschann, FelixMisra-Isrie, MalaLouie, Raymond J.Stolerman, Elliot S.Sanchez-Lara, Pedro A.Mergler, SandraOegema, RenskeZarate, Yuri A.Kariminejad, ArianaTajsharghi, HomaZeidler, ShimrietKievit, Anneke J.A.Bouman, ArjanCappuccio, GerardaBrunetti-Pierri, NicolaStuurman, Kyra E.Swols, Dayna MorelTekin, MustafaUpadia, JariyaMartin, Donna M.Craven, DanielHiatt, Susan M.van de Pol, Laura A.D'Arco, FeliceMargot, HenriWilke, MartinaYousefi, SoheilBarakat, Tahsin Stefanvan Veghel-Plandsoen, Monique M.Aronica, EleonoraAnink, JasperRogers, Stephen L.Slep, Kevin C.Doherty, DanDobyns, William B.Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Academic Journal
Eur J Pediatr
on behalf of RADICON-NL consortium 2023, 'Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands', European Journal of Pediatrics, vol. 182, no. 6, pp. 2683-2692. https://doi.org/10.1007/s00431-023-04909-1
European Journal of Pediatrics, 182, 6, pp. 2683-2692
Eur J Pediatr.
Academic Journal
Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327
Academic Journal
Int J Mol Sci
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 13664
van der Laan, L, Rooney, K, Alders, M, Relator, R, McConkey, H, Kerkhof, J, Levy, M A, Lauffer, P, Aerden, M, Theunis, M, Legius, E, Tedder, M L, Vissers, L E L M, Koene, S, Ruivenkamp, C, Hoffer, M J V, Wieczorek, D, Bramswig, N C, Herget, T, González, V L P, Santos-Simarro, F, Tørring, P M, Denomme-Pichon, A-S, Isidor, B, Keren, B, Julia, S, Schaefer, E, Francannet, C, Maillard, P-Y, Misra-Isrie, M, van Esch, H, Mannens, M M A M, Sadikovic, B, van Haelst, M M & Henneman, P 2022, 'Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome', International Journal of Molecular Sciences, vol. 23, no. 22, 13664. https://doi.org/10.3390/ijms232213664
International Journal of Molecular Sciences, 23, 22
Editorial & Opinion
Schieving JH; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.; de Bot ST; Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.; van de Pol LA; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Wolf NI; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam, The Netherlands.; Brilstra EH; University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.; Frints SG; Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands.; van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.; Misra-Isrie M; Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.; Pennings M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Verschuuren-Bemelmans CC; University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.; Willemsen MA; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
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[검색어] Misra-Isrie, M.
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