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1Academic Journal
المؤلفون: Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietilainen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C
المصدر: Genetics in Medicine, 2019
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/258593; https://eprints.ncl.ac.uk/fulltext.aspx?url=258593/F0E1ABDB-4089-44E5-9A70-3667F73FF945.pdf&pub_id=258593
الاتاحة: https://eprints.ncl.ac.uk/258593
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2Academic Journal
المؤلفون: Konrad, EDH, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, SL, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, KE, Õunap, K, Pajusalu, S, Wojcik, MH, Vasileiou, G, Le Guyader, G, Schnelle, HM, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, PR, Ellingson, MS, Ferber, MJ, Dhamija, R, Klee, EW, McEntagart, M, Lichtenbelt, KD, Kenney, A, Vergano, SA, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, RJ, Martin, RJ, Jongmans, MCJ, Chang, VY, Martinez-Agosto, JA, Kuismin, O, Kurki, MI, Pietiläinen, O, Palotie, A, Maarup, TJ, Johnson, DS, Venborg Pedersen, K, Laulund, LW, Lynch, SA, Blyth, M, Prescott, K, Canham, N, Ibitoye, R, Brilstra, EH, Shinawi, M, Fassi, E, DDD Study, Sticht, H, Gregor, A, Van Esch, H, Zweier, C
وصف الملف: application/pdf
Relation: https://openaccess.sgul.ac.uk/id/eprint/111563/1/s41436-019-0585-z.pdf; Konrad, EDH; Nardini, N; Caliebe, A; Nagel, I; Young, D; Horvath, G; Santoro, SL; Shuss, C; Ziegler, A; Bonneau, D; et al. Konrad, EDH; Nardini, N; Caliebe, A; Nagel, I; Young, D; Horvath, G; Santoro, SL; Shuss, C; Ziegler, A; Bonneau, D; Kempers, M; Pfundt, R; Legius, E; Bouman, A; Stuurman, KE; Õunap, K; Pajusalu, S; Wojcik, MH; Vasileiou, G; Le Guyader, G; Schnelle, HM; Berland, S; Zonneveld-Huijssoon, E; Kersten, S; Gupta, A; Blackburn, PR; Ellingson, MS; Ferber, MJ; Dhamija, R; Klee, EW; McEntagart, M; Lichtenbelt, KD; Kenney, A; Vergano, SA; Abou Jamra, R; Platzer, K; Ella Pierpont, M; Khattar, D; Hopkin, RJ; Martin, RJ; Jongmans, MCJ; Chang, VY; Martinez-Agosto, JA; Kuismin, O; Kurki, MI; Pietiläinen, O; Palotie, A; Maarup, TJ; Johnson, DS; Venborg Pedersen, K; Laulund, LW; Lynch, SA; Blyth, M; Prescott, K; Canham, N; Ibitoye, R; Brilstra, EH; Shinawi, M; Fassi, E; DDD Study; Sticht, H; Gregor, A; Van Esch, H; Zweier, C (2019) CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med, 21 (12). pp. 2723-2733. ISSN 1530-0366 https://doi.org/10.1038/s41436-019-0585-z SGUL Authors: McEntagart, Meriel
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المصدر: CLINICAL CANCER RESEARCH
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: otorhinolaryngologic diseases
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المؤلفون: Evans DGR, Salvador-Hernandez H, Chang VY, Erez A, Voss SD, Schneider KW, Scott HS, Plon SE, Tabori U
المصدر: CLINICAL CANCER RESEARCH
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu -
5Academic Journal
المؤلفون: Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Hulsebos TJ, Giovannini M, Nelson SF, Papi L., TREVISSON, EVA
المساهمون: Paganini, I, Chang, Vy, Capone, Gl, Vitte, J, Benelli, M, Barbetti, L, Sestini, R, Trevisson, Eva, Hulsebos, Tj, Giovannini, M, Nelson, Sf, Papi, L.
مصطلحات موضوعية: LZTR1, Schwannomatosis
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/25335493; info:eu-repo/semantics/altIdentifier/wos/WOS:000356170700011; volume:23; issue:7; firstpage:963; lastpage:968; numberofpages:6; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3015699; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930870937; http://www.nature.com/ejhg/journal/v23/n7/full/ejhg2014220a.html
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المصدر: Nordic Journal of Psychiatry. 62:37-44
مصطلحات موضوعية: medicine.medical_specialty, Psychotherapist, medicine.medical_treatment, media_common.quotation_subject, MEDLINE, behavioral disciplines and activities, medicine, Humans, Initial treatment, Psychiatry, Sophistication, media_common, Depressive Disorder, Cognitive Behavioral Therapy, business.industry, Smoking, Health Maintenance Organizations, Cognition, Anxiety Disorders, Hospitals, Leadership, Psychiatry and Mental health, Moderate depression, Therapy, Computer-Assisted, Smoking cessation, Anxiety, Smoking Cessation, The Internet, medicine.symptom, Psychology, business