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1Academic Journal
المؤلفون: Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM
Relation: Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortes, F. M. ,. Messiaen, L. M. (2019). Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. HUMAN MUTATION, 41 (1), pp.299-315. https://doi.org/10.1002/humu.23929.; http://hdl.handle.net/11343/304382
الاتاحة: http://hdl.handle.net/11343/304382
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2Academic Journal
المؤلفون: Estañ, M., Fernández-Núñez, E., Zaki, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, Jose, Saade, D., Hu, Y., Bolduc, V., Chao, K., Nevado, J., Lamuedra, A., Largo, R., Herrero-Beaumont, G., Regadera, J., Hernandez-Chico, C., Tizzano, E., Martinez-Glez, V., Carvajal, J., Zong, R., Nelson, D., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Yoon, G., Ruiz-Perez, V.
وصف الملف: fulltext
Relation: http://hdl.handle.net/20.500.11937/74797
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3Academic Journal
المؤلفون: Koczkowska, M, Chen, YJ (Yuan Jia), Callens, T, Gomes, A, Sharp, A, Johnson, S, Hsiao, MC, Chen, ZB, Balasubramanian, M, Barnett, CP, Becker, TA, Ben-Shachar, S, Bertola, DR, Blakeley, JO, Burkitt-Wright, EMM, Callaway, A, Crenshaw, M, Cunha, KS, Cunningham, M, D'Agostino, MD, Dahan, K, Luca, A, Destree, A, Dhamija, R, Eoli, M, Evans, DGR, Galvin-Parton, P, George-Abraham, JK, Gripp, KW, Guevara-Campos, J, Hanchard, NA, Hernandez-Chico, C, Immken, L, Janssens, S, Jones, KJ, Keena, BA, Kochhar, A, Liebelt, J, Martir-Negron, A, Mahoney, MJ, Maystadt, I, McDougall, C, McEntagart, M, Mendelsohn, N, Miller, DT, Mortier, G, Morton, J, Pappas, J, Plotkin, SR, Pond, D, Rosenbaum, K, Rubin, K, Russell, L, Rutledge, LS, Saletti, V, Schonberg, R, Schreiber, A, Seidel, M, Siqveland, E, Stockton, DW, Trevisson, E, Ullrich, NJ, Upadhyaya, M, van Minkelen, Rick, Verhelst, H, Wallace, MR, Yap, YS, Zackai, E, Zonana, J, Zurcher, V, Claes, K, Martin, Y, Korf, BR, Legius, E, Messiaen, LM
المصدر: Koczkowska , M , Chen , YJ , Callens , T , Gomes , A , Sharp , A , Johnson , S , Hsiao , MC , Chen , ZB , Balasubramanian , M , Barnett , CP , Becker , TA , Ben-Shachar , S , Bertola , DR , Blakeley , JO , Burkitt-Wright , EMM , Callaway , A , Crenshaw , M , Cunha , KS , Cunningham , M , D'Agostino , MD , Dahan , K , Luca , A , Destree , A , Dhamija , R , Eoli , M ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Koczkowska M., Callens T., Chen Y., Gomes A., Hicks A. D., Sharp A., Johns E., Uhas K. A., Armstrong L., Bosanko K. A., Babovic-Vuksanovic D., Baker L., Basel D. G., Bengala M., Bennett J. T., Chambers C., Clarkson L. K., Clementi M., Cortes F. M., Cunningham M., D'Agostino M. D., Delatycki M. B., Digilio M. C., Dosa L., Esposito S., Fox S., Freckmann M. -L., Fauth C., Giugliano T., Giustini S., Goetsch A., Goldberg Y., Greenwood R. S., Griffis C., Gripp K. W., Gupta P., Haan E., Hachen R. K., Haygarth T. L., Hernandez-Chico C., Hodge K., Hopkin R. J., Hudgins L., Janssens S., Keller K., Kelly-Mancuso G., Kochhar A., Korf B. R., Lewis A. M., Liebelt J., Lichty A., Listernick R. H., Lyons M. J., Maystadt I., Martinez Ojeda M., McDougall C., McGregor L. K., Melis D., Mendelsohn N., Nowaczyk M. J. M., Ortenberg J., Panzer K., Pappas J. G., Pierpont M. E., Piluso G., Pinna V., Pivnick E. K., Pond D. A., Powell C. M., Rogers C., Ruhrman Shahar N., Rutledge S. L., Saletti V., Sandaradura S. A., Santoro C., Schatz U. A., Schreiber A., Scott D. A., Sellars E. A., Sheffer R., Siqveland E., Slopis J. M., Smith R., Spalice A., Stockton D. W., Streff H., Theos A., Tomlinson G. E., Tran G., Trapane P. L., Trevisson E., Ullrich N. J., Van den Ende J., Schrier Vergano S. A., Wallace S. E., Wangler M. F., Weaver D. D., Yohay K. H., Zackai E., Zonana J., Zurcher V., Claes K. B. M., Eoli M., Martin Y., Wimmer K., De Luca A., Legius E., Messiaen L. M.
المساهمون: Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortes, F. M., Cunningham, M., D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. -L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernandez-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., Mcdougall, C., Mcgregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J.
مصطلحات موضوعية: genotype–phenotype correlation, NF1, p.Arg1276, p.Lys1423, p.Met1149
Relation: info:eu-repo/semantics/altIdentifier/pmid/31595648; info:eu-repo/semantics/altIdentifier/wos/WOS:000492598500001; volume:41; issue:1; firstpage:299; lastpage:315; numberofpages:17; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3324233; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074609550; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004
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5Academic Journal
المؤلفون: Bernal, S, Alías, L, Barceló, M J, Also-Rallo, E, Martínez-Hernández, R, Gámez, J, Guillén-Navarro, E, Rosell, J, Hernando, I, Rodríguez-Alvarez, F J, Borrego, S, Millán, J M, Hernández-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, E F
مصطلحات موضوعية: Letter to JMG
وصف الملف: text/html
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6Electronic Resource
المؤلفون: Koczkowska, M, Callens, T, Chen, Y, Gomes, A, Hicks, AD, Sharp, A, Johns, E, Uhas, KA, Armstrong, L, Bosanko, KA, Babovic-Vuksanovic, D, Baker, L, Basel, DG, Bengala, M, Bennett, JT, Chambers, C, Clarkson, LK, Clementi, M, Cortes, FM, Cunningham, M, D'Agostino, MD, Delatycki, MB, Digilio, MC, Dosa, L, Esposito, S, Fox, S, Freckmann, M-L, Fauth, C, Giugliano, T, Giustini, S, Goetsch, A, Goldberg, Y, Greenwood, RS, Griffis, C, Gripp, KW, Gupta, P, Haan, E, Hachen, RK, Haygarth, TL, Hernandez-Chico, C, Hodge, K, Hopkin, RJ, Hudgins, L, Janssens, S, Keller, K, Kelly-Mancuso, G, Kochhar, A, Korf, BR, Lewis, AM, Liebelt, J, Lichty, A, Listernick, RH, Lyons, MJ, Maystadt, I, Ojeda, MM, McDougall, C, McGregor, LK, Melis, D, Mendelsohn, N, Nowaczyk, MJM, Ortenberg, J, Panzer, K, Pappas, JG, Pierpont, ME, Piluso, G, Pinna, V, Pivnick, EK, Pond, DA, Powell, CM, Rogers, C, Shahar, NR, Rutledge, SL, Saletti, V, Sandaradura, SA, Santoro, C, Schatz, UA, Schreiber, A, Scott, DA, Sellars, EA, Sheffer, R, Siqveland, E, Slopis, JM, Smith, R, Spalice, A, Stockton, DW, Streff, H, Theos, A, Tomlinson, GE, Tran, G, Trapane, PL, Trevisson, E, Ullrich, NJ, Van den Ende, J, Vergano, SAS, Wallace, SE, Wangler, MF, Weaver, DD, Yohay, KH, Zackai, E, Zonana, J, Zurcher, V, Claes, KBM, Eoli, M, Martin, Y, Wimmer, K, De Luca, A, Legius, E, Messiaen, LM
مصطلحات الفهرس: Journal Article
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7Academic Journal
المؤلفون: Valero, M C, Velasco, E, Valero, A, Moreno, F, Hernández-Chico, C
مصطلحات موضوعية: Research Article
وصف الملف: text/html
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8Academic Journal
المؤلفون: Velasco, E., de la Puente, A., Cruces, J., Valero, M. del Carmen, Garcfa-Patino, E., Castillo, l.del, Coloma, A., Moren, F., Hernández-Chico, C.
مصطلحات موضوعية: DNA MARKERS AND POLYMORPHISMS
وصف الملف: text/html
Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/8/1441; http://dx.doi.org/10.1093/hmg/3.8.1441
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9Academic Journal
المؤلفون: Vizán, J. L., Hernández-Chico, C., del Castillo, I., Moreno, F.
المصدر: The EMBO Journal ; volume 10, issue 2, page 467-476 ; ISSN 0261-4189
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10Academic Journal
المؤلفون: Koczkowska, M. (Magdalena), Callens, T. (Tom), Gomes, A. (Alicia), Sharp, A. (Angela), Chen, Y. (Yunjia), Hicks, A.D. (Alesha D.), Aylsworth, A.S. (Arthur S.), Azizi, A.A. (Amedeo A.), Basel, D.G. (Donald G.), Bellus, G. (Gary), Bird, L.M. (Lynne), Blazo, M. (Maria), Burke, L.W. (Leah W.), Cannon, A. (Ashley), Collins, F. (Felicity), DeFilippo, C. (Colette), Denayer, E. (Ellen), Digilio, M.C. (Maria), Dills, S.K. (Shelley K.), Dosa, L. (Laura), Greenwood, R.S. (Robert S.), Griffis, C. (Cristin), Gupta, P. (Punita), Hachen, R.K. (Rachel K.), Hernández-Chico, C. (Concepción), Janssens, S. (Sandra), Jones, K.J. (Kristi), Jordan, J.T. (Justin T.), Kannu, P. (Peter), Korf, B. (Bruce), Lewis, A.M. (Andrea M.), Listernick, R.H. (Robert H.), Lonardo, F. (Fortunato), Mahoney, M.J. (Maurice J.), Ojeda, M.M. (Mayra Martinez), McDougall, C. (Carey), Mendelsohn, N.J., Miller, D.T. (David T.), Mori, M. (Mari), Oostenbrink, R. (Rianne), Perreault, S. (Sebastien), Pierpont, M.E. (Mary Ella), Piscopo, C. (Carmelo), Pond, D.A. (Dinel A.), Randolph, L.M. (Linda M.), Rauen, K.A. (Katherine), Rednam, S. (Surya), Rutledge, S.L. (S. Lane), Saletti, V. (Veronica), Schaefer, G.B. (G. Bradley), Schorry, E.K. (Elizabeth K.), Scott, D.A., Shugar, A. (Andrea), Siqveland, E. (Elizabeth), Starr, L. (Lois), Syed, A. (Ashraf), Trapane, P.L. (Pamela L.), Ullrich, N.J. (Nicole J.), Wakefield, E.G. (Emily G.), Walsh, L.E. (Laurence E.), Wangler, M.F. (Michael F.), Zackai, E. (Elaine), Claes, K. (Kathleen), McDonald, M.T. (Marie), Wimmer, K. (Katharina), Thornton, A.S. (Andrew), De Luca, A. (Alessandro), Martin, Y. (Yolanda), Legius, E. (Eric), Messiaen, L.M. (Ludwine)
المصدر: Genetics in Medicine
مصطلحات موضوعية: genotype–phenotype correlation, learning difficulties, neurofibroma, NF1, p.Met992del
وصف الملف: application/pdf
Relation: https://repub.eur.nl/pub/110371; urn:hdl:1765/110371
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11Academic Journal
المؤلفون: Hernández‐Imaz, E, Campos, B, Rodríguez‐Álvarez, FJ, Abad, O, Melean, G, Gardenyes, J, Martín, Y, Hernández‐Chico, C
المصدر: Clinical Genetics ; volume 83, issue 5, page 462-466 ; ISSN 0009-9163 1399-0004
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12
المؤلفون: Bernal, S, Alias, L, Barcelo, MJ, Also-Rallo, E, Martinez-Hernandez, R, Gamez, J, Guillen-Navarro, E, Rosell, J, Hernando, I, Rodriguez-Alvarez, FJ, Borrego, S, Millan, JM, Hernandez-Chico, C, Baiget, M, Fuentes-Prior, P, Tizzano, EF
المصدر: JOURNAL OF MEDICAL GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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13Book
المؤلفون: Moreno, F., Millán, J.L. San, Hernández-Chico, C., Kolter, R.
المصدر: Genetics and Biochemistry of Antibiotic Production ; page 307-321 ; ISBN 9780750690959
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14Book
المؤلفون: Hernández-Chico, C., Mayo, O., Vizán, J. L., Laviña, M., Moreno, F.
المصدر: Bacteriocins, Microcins and Lantibiotics ; page 15-17 ; ISBN 9783642769764 9783642769740
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15Academic Journal
المؤلفون: Martín, Y, Valero, A, López‐Terradas, JM, Marsal, C, Hernández‐Chico, C
المصدر: Clinical Genetics ; volume 57, issue 2, page 154-156 ; ISSN 0009-9163 1399-0004
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16Academic Journal
المؤلفون: de la Puente, A., Velasco, E., Pérez Jurado, L.A., Hernández-Chico, C., van de Rijke, F.M., Scherer, S.W., Raap, A.K., Cruces, J.
المصدر: Cytogenetic and Genome Research ; volume 83, issue 3-4, page 176-181 ; ISSN 1424-8581 1424-859X
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17Academic Journal
المؤلفون: Aldea, M., Garrido, T., Hernández-Chico, C., Vicente, M., Kushner, S.R.
المصدر: The EMBO Journal ; volume 8, issue 12, page 3923-3931 ; ISSN 0261-4189
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18Academic Journal
المؤلفون: Aldea, M, Hernández-Chico, C, de la Campa, A G, Kushner, S R, Vicente, M
المصدر: Journal of Bacteriology ; volume 170, issue 11, page 5169-5176 ; ISSN 0021-9193 1098-5530
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19Academic Journal
المؤلفون: Mayo, O, Hernández-Chico, C, Moreno, F
المصدر: Journal of Bacteriology ; volume 170, issue 5, page 2414-2417 ; ISSN 0021-9193 1098-5530
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20Academic Journal
المؤلفون: San Millan, J L, Hernandez-Chico, C, Pereda, P, Moreno, F
المصدر: Journal of Bacteriology ; volume 163, issue 1, page 275-281 ; ISSN 0021-9193 1098-5530