المؤلفون: Gannon, T, Perveen, R, Schlecht, H, Ramsden, S, Anderson, B, Kerr, B, Day, R, Banka, S, Suri, M, Berland, S, Gabbett, M, Ma, A, Lyonnet, S, Cormier-Daire, V, Yilmaz, R, Borck, G, Wieczorek, D, Anderlid, BM, Smithson, S, Vogt, J, Moore-Barton, H, Simsek-Kiper, PO, Maystadt, I, Destree, A, Bucher, J, Angle, B, Mohammed, S, Wakeling, E, Price, S, Singer, A, Sznajer, Y, Toutain, A, Haye, D, Newbury-Ecob, R, Fradin, M, McGaughran, J, Tuysuz, B, Tein, M, Bouman, K, Dabir, T, Van den Ende, J, Luk, HM, Pilz, DT, Eason, J, Davies, S, Reardon, W, Garavelli, L, Zuffardi, O, Devriendt, K, Armstrong, R, Johnson, D, Doco-Fenzy, M, Bijlsma, E, Unger, S, Veenstra-Knol, HE, Kohlhase, J, Lo, IFM, Smith, J, Clayton-Smith, J

المصدر: European journal of human genetics : EJHG. 23(9):1165-1170

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131785262

المؤلفون: Nijkamp, P., Kourtit, Karima, Khattabi, A., Rose, A., Kocornik-Mina, A., Faggian, A., Scott, A., Batabyal, A., Barufi, A. M. B., Torre, A., Caragliu, A., Lundgren, A., Bailly, A., Getis, A., Reggiani, A., Stimson, B., Macharis, C., Karlsson, C., Kim, E., Shefer, D., Constantin, D., Griffith, D., Nakamura, D., Czamanski, D., Plane, D., Glaeser, E., Mack, E., Haddad, E., Mazzola, F., Snickars, F., Giuliano, G., Hewings, G., Mulligan, G., Maier, G., Qian, H., Westlund, H., Richardson, H., Folmer, H., Scholten, H., Poot, J., Thill, J. -C, Lesage, J., Kohlhase, J., Romao, J., Broecker, J., Östh, J., Martin, J. C., Cuadrado-Roura, J., Geurs, K., Donaghy, K., Haynes, K., Zimmermann, K., Schintler, L., Gibson, L., Anselin, L., Girard, L. F., Fischer, M., Partridge, M., Boarnet, M., Andersson, M., Fujita, M., Batty, M., Carroll, M., Marinescu, M. M., Bucek, M., Reid, N., Hudec, O., Aroca, P., Batey, P., Taylor, P., Cooke, P., Franklin, R., Jackson, R., Florida, R., Capello, R., Camagni, R., Stough, R., Boschma, R., Dall’Erba, S., Sassen, S., Rey, S., Suzuki, S., Haas, T., Dentinho, T., Kim, T. J., Blien, U., Mora, V. R., Ratajczak, W., Tobler, W., Lutz, W., Shiftan, Y., Higano, Y., Wen, Y.

المصدر: Region. 3(1):R1-R16

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-280513
https://doi.org/10.18335/region.v3i1.120

المؤلفون: Backman, Mikaela, 1981, Kohlhase, J. E.

المصدر: The annals of regional science. 68:9-28

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-55195

المؤلفون: Kraya, T., Quandt, D., Pfirrmann, T., Kindermann, A., Lampe, L., Schroeter, M., Kohlhase, J., Stoevesandt, D., Hoffmann, K., Villavicencio‐Lorini, P.

المصدر: Molecular Genetics & Genomic Medicine

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30729751; http://hdl.handle.net/21.11116/0000-0003-8C52-3; http://hdl.handle.net/21.11116/0000-0003-8CAF-B

الاتاحة: http://hdl.handle.net/21.11116/0000-0003-8C52-3
http://hdl.handle.net/21.11116/0000-0003-8CAF-B

المؤلفون: Ruaud L., Drunat S., Elmaleh-Bergès M., Ernault A., Guilmin Crepon S., El Ghouzzi V., Auvin S., Verloes A., Passemard S., Van Maldergem L., Engel C., Altuzarra C., Lamidieu C., Bayat A., Moortgat S., Pelc K., Maystadt I., Abramowicz M., Pirson I., Duerinckx S., Rostomashvili N., Zweier C., Abou Jamra R., Lorenz I., Haye D., Zaafrane-Khachnaoui K., Vaessen S., Capri Y., Servais L., Di Maria E., Kohlhase J., Bast T., Miladi N., Dali S.

المساهمون: Ruaud, L., Drunat, S., Elmaleh-Bergès, M., Ernault, A., Guilmin Crepon, S., El Ghouzzi, V., Auvin, S., Verloes, A., Passemard, S., Van Maldergem, L., Engel, C., Altuzarra, C., Lamidieu, C., Bayat, A., Moortgat, S., Pelc, K., Maystadt, I., Abramowicz, M., Pirson, I., Duerinckx, S., Rostomashvili, N., Zweier, C., Abou Jamra, R., Lorenz, I., Haye, D., Zaafrane-Khachnaoui, K., Vaessen, S., Capri, Y., Servais, L., Di Maria, E., Kohlhase, J., Bast, T., Miladi, N., Dali, S.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35726608; info:eu-repo/semantics/altIdentifier/wos/WOS:000698908800001; volume:64; firstpage:509; lastpage:517; numberofpages:9; journal:DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY; https://hdl.handle.net/11567/1118735; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115835430

الاتاحة: https://hdl.handle.net/11567/1118735
https://doi.org/10.1111/dmcn.15060

المؤلفون: Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurdsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R

Relation: https://zenodo.org/communities/cicbiogune_repo; https://doi.org/10.1016/j.ajhg.2017.12.017; oai:zenodo.org:2640486

الاتاحة: https://doi.org/10.1016/j.ajhg.2017.12.017

المؤلفون: Haus, A.H., Kohlhase, J., Käsmann, B., Seitz, B.

المصدر: Der Ophthalmologe; 20240101, Issue: Preprints p1-4, 4p

المؤلفون: Schulz, Y, Wehner, P, Opitz, L, Salinas-Riester, G, Bongers, EMHF, van Ravenswaaij-Arts, CMA, Wincent, J, Schoumans, J, Kohlhase, J, Borchers, A, Pauli, S

المصدر: Human genetics. 133(8):997-1009

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129496444

المؤلفون: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, EI, Silva, ED, Madlom, MM, Goudie, DR, Fleck, BW, Wieczorek, D, Kohlhase, J, McTrusty, AD, Gardiner, C, Yale, C, Moore, AT, Russell-Eggitt, I, Islam, L, Lees, M, Beales, PL, Tuft, SJ, Solano, JB, Splitt, M, Hertz, JM, Prescott, TE, Shears, DJ, Nischal, KK, Doco-Fenzy, M, Prieur, F, Temple, IK, Lachlan, KL, Damante, G, Morrison, DA, van Heyningen, V, FitzPatrick, DR

المصدر: PLoS One , 11 (4) , Article e0153757. (2016)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDF; https://discovery.ucl.ac.uk/id/eprint/1489804/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDF
https://discovery.ucl.ac.uk/id/eprint/1489804/

المؤلفون: Kratz, C P, Franke, L, Peters, H, Kohlschmidt, N, Kazmierczak, B, Finckh, U, Bier, A, Eichhorn, B, Blank, C, Kraus, C, Kohlhase, J, Pauli, S, Wildhardt, G, Kutsche, K, Auber, B, Christmann, A, Bachmann, N, Mitter, D, Cremer, F W, Mayer, K, Daumer-Haas, C, Nevinny-Stickel-Hinzpeter, C, Oeffner, F, Schlüter, G, Gencik, M, Überlacker, B, Lissewski, C, Schanze, I, Greene, M H, Spix, C, Zenker, M

المصدر: British Journal of Cancer ; volume 112, issue 8, page 1392-1397 ; ISSN 0007-0920 1532-1827

الاتاحة: http://dx.doi.org/10.1038/bjc.2015.75
http://www.nature.com/articles/bjc201575.pdf
http://www.nature.com/articles/bjc201575

المؤلفون: Schneider, A., Hasan, A., Hirschel, S., Wilhelm, C., Kohlhase, J., Falkai, P., Gaertner, J., Steinfeld, R., Wobrock, T., Degner, D.

المساهمون: Schneider, A., Hasan, A., Hirschel, S., Wilhelm, C., Kohlhase, J., Falkai, P., Gaertner, J., Steinfeld, R., Wobrock, T., Degner, D.

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/487; 000273377700014; 3143019

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/487
https://doi.org/10.4088/JCP.09l05010

المؤلفون: Kelberman, D, Islam, L, Lakowski, J, Bacchelli, C, Chanudet, E, Lescai, F, Patel, A, Stupka, E, Buck, A, Wolf, S, Beales, PL, Jacques, TS, Bitner-Glindzicz, M, Liasis, A, Lehmann, OJ, Kohlhase, J, Nischal, KK, Sowden, JC

المصدر: Hum Mol Genet , 23 (10) pp. 2511-2526. (2014)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1420526/1/Hum._Mol._Genet.-2014-Kelberman-2511-26.pdf; https://discovery.ucl.ac.uk/id/eprint/1420526/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1420526/1/Hum._Mol._Genet.-2014-Kelberman-2511-26.pdf
https://discovery.ucl.ac.uk/id/eprint/1420526/

المؤلفون: Hamilton, Alexander, Bingham, C, McDonald, TJ, Cook, PR, Caswell, RC, Weedon, MN, Oram, RA, Shields, BM, Shepherd, M, Inward, Carol D, Hamilton-Shield, Julian P, Kohlhase, J, Ellard, S, Hattersley, AT

المصدر: Hamilton , A , Bingham , C , McDonald , TJ , Cook , PR , Caswell , RC , Weedon , MN , Oram , RA , Shields , BM , Shepherd , M , Inward , C D , Hamilton-Shield , J P , Kohlhase , J , Ellard , S & Hattersley , AT 2014 , ' The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype ' , Journal of Medical Genetics , vol. 51 , no. 3 , 165-169 . https://doi.org/10.1136/jmedgenet-2013-102066

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/1983/e8274d00-fc09-4801-b67e-56e646d7384b
https://research-information.bris.ac.uk/en/publications/e8274d00-fc09-4801-b67e-56e646d7384b
https://doi.org/10.1136/jmedgenet-2013-102066
https://research-information.bris.ac.uk/ws/files/100569122/J_Med_Genet_2014_Hamilton_165_9.pdf

المؤلفون: Kelberman, D., Islam, L., Lakowski, J., Bacchelli, C., Chanudet, E., Lescai, F., Patel, A., Stupka, E., Buck, A., Wolf, S., Beales, P. L., Jacques, T. S., Bitner-Glindzicz, M., Liasis, A., Lehmann, O. J., Kohlhase, J., Nischal, K. K., Sowden, J. C.

المصدر: Human Molecular Genetics ; volume 23, issue 10, page 2511-2526 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddt643
http://academic.oup.com/hmg/article-pdf/23/10/2511/1687503/ddt643.pdf

المؤلفون: H��ffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Fr��d��ric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Kl��ckner, Chiara, McGaughran, Julie, Kohlhase, J��rgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, Andr��, Zweier, Christiane

المصدر: Orphanet Journal of Rare Diseases
Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A; Rawson, Kristyn L; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Nelson, Stanley F; ... (2021). EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet journal of rare diseases, 16(1), p. 136. BioMed Central 10.1186/s13023-021-01744-1 <http://dx.doi.org/10.1186/s13023-021-01744-1>

مصطلحات موضوعية: Cleft Lip, Eukaryotic Initiation Factor-3, Research, EIF3F gene, 610 Medicine & health, Deafness, Cleft Palate, Short stature, Neurodevelopmental disorder, Neurodevelopmental Disorders, Intellectual Disability, Microcephaly, Behavioral difficulties, Humans, Altered muscular tone, ddc:610

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c030976d24aa0e2895bd4c27349a1a1
https://opus4.kobv.de/opus4-fau/files/17672/s13023-021-01744-1.pdf

المؤلفون: Frommel M, Geisthövel F, Ochsner A, Kohlhase J, Noss U, Nevinny-Stickel-Hinzpeter C

مصطلحات موضوعية: Embryonenschutzgesetz, Ethikkommission, Ordnungswidrigkeiten, PID-Rechtsverordnungen, Präimplantationsdiagnostik

Relation: http://www.kup.at/kup/pdf/11301.pdf

الاتاحة: http://www.kup.at/kup/pdf/11301.pdf

المؤلفون: Rainger, J., Bengani, H., Campbell, L., Anderson, E., Sokhi, K., Lam, W., Riess, A., Ansari, M., Smithson, S., Lees, M., Mercer, C., McKenzie, K., Lengfeld, T., Gener Querol, B., Branney, P., McKay, S., Morrison, H., Medina, B., Robertson, M., Kohlhase, J., Gordon, C., Kirk, J., Wieczorek, D., FitzPatrick, D. R.

المصدر: Human Molecular Genetics ; volume 21, issue 18, page 3969-3983 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/dds218
http://academic.oup.com/hmg/article-pdf/21/18/3969/17256095/dds218.pdf

المؤلفون: Gregor, A, Albrecht, B, Bader, I, Bijlsma, E K, Ekici, A B, Engels, H, Hackmann, K, Horn, D, Hoyer, J, Klapecki, J, Kohlhase, J, Maystadt, I, Nagl, S, Prott, E, Tinschert, S, Ullmann, R, Wohlleber, E, Woods, G, Reis, A, Rauch, A, Zweier, C

المصدر: Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/52995/1/Gregor_et_al,_Expanding_the_clinical.pdf; info:pmid/21827697; urn:issn:1471-2350

الاتاحة: https://www.zora.uzh.ch/id/eprint/52995/
https://www.zora.uzh.ch/id/eprint/52995/1/Gregor_et_al,_Expanding_the_clinical.pdf

المؤلفون: Netzer, C, Klein, C, Kohlhase, J, Kubisch, C

مصطلحات موضوعية: PostScript

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/46/7/495; http://dx.doi.org/10.1136/jmg.2009.068015

الاتاحة: http://jmg.bmj.com/cgi/content/short/46/7/495
https://doi.org/10.1136/jmg.2009.068015

المؤلفون: Fischer, S, Kohlhase, J, Böhm, D, Schweiger, B, Hoffmann, D, Heitmann, M, Horsthemke, B, Wieczorek, D

مصطلحات موضوعية: Letters to JMG

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/45/11/731; http://dx.doi.org/10.1136/jmg.2008.059451

الاتاحة: http://jmg.bmj.com/cgi/content/short/45/11/731
https://doi.org/10.1136/jmg.2008.059451