المؤلفون: Schmetz, A., Lüdecke, H. J., Surowy, H., Sivalingam, S., Bruel, A. L., Caumes, R., Charles, P., Chatron, N., Chrzanowska, K., Codina-Solà, M., Colson, C., Cuscó, I., Denommé-Pichon, A. S., Edery, P., Faivre, L., Green, A., Heide, S., Hsieh, T. C., Hustinx, A., Kleinendorst, L., Knopp, C., Kraft, F., Krawitz, P. M., Lasa-Aranzasti, A., Lesca, G., López-González, V., Maraval, J., Mignot, C., Neuhann, T., Netzer, C., Oehl-Jaschkowitz, B., Petit, Florence, Philippe, C., Posmyk, R., Putoux, A., Reis, A., Sánchez-Soler, M. J., Suh, J., Tkemaladze, T., Tran Mau Them, F., Travessa, A., Trujillano, L., Valenzuela, I., Van Haelst, M. M., Vasileiou, G., Vincent-Delorme, C., Walther, M., Verde, P., Bramswig, N. C., Wieczorek, D.

المساهمون: Université de Lille, CHU Lille, University Hospital Düsseldorf, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

وصف الملف: application/octet-stream

Relation: Human Genetics; Hum Genet; http://hdl.handle.net/20.500.12210/109674

الاتاحة: https://hdl.handle.net/20.500.12210/109674

المؤلفون: Schmetz, A., Lüdecke, H. J., Surowy, H., Sivalingam, S., Bruel, A. L., Caumes, R., Charles, P., Chatron, N., Chrzanowska, K., Codina-Solà, M., Colson, C., Cuscó, I., Denommé-Pichon, A. S., Edery, P., Faivre, L., Green, A., Heide, S., Hsieh, T. C., Hustinx, A., Kleinendorst, L., Knopp, C., Kraft, F., Krawitz, P. M., Lasa-Aranzasti, A., Lesca, G., López-González, V., Maraval, J., Mignot, C., Neuhann, T., Netzer, C., Oehl-Jaschkowitz, B., Petit, Florence, Philippe, C., Posmyk, R., Putoux, A., Reis, A., Sánchez-Soler, M. J., Suh, J., Tkemaladze, T., Tran Mau Them, F., Travessa, A., Trujillano, L., Valenzuela, I., van Haelst, M. M., Vasileiou, G., Vincent-Delorme, C., Walther, M., Verde, P., Bramswig, N. C., Wieczorek, D.

المساهمون: University Hospital Düsseldorf, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0340-6717.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38117302; hal-04617051; https://hal.univ-lille.fr/hal-04617051; PUBMED: 38117302

الاتاحة: https://hal.univ-lille.fr/hal-04617051
https://doi.org/10.1007/s00439-023-02622-5

المؤلفون: Reijnders, M.R.F. (Margot R.F.), Miller, K.A. (Kerry A.), Alvi, M. (Mohsan), Goos, J.A.C. (Jacqueline), Lees, M.M. (Melissa), de Burca, A. (Anna), Henderson, A. (Alex), Kraus, A. (Alison), Mikat, B. (Barbara), Vries, B. (Boukje) de, Isidor, B. (Bertrand), Kerr, B. (Bronwyn), Marcelis, C.L.M. (Carlo), Schluth-Bolard, C. (Caroline), Deshpande, C. (Charu), Ruivenkamp, C.A. (Claudia), Wieczorek, D. (Dagmar), Baralle, D. (Diana), Blair, E.M. (Ed), Engels, H. (Hartmut), Lüdecke, H.-J. (Hermann-Josef), Eason, J. (Jacqueline), Santen, G.W.E. (Gijs), Clayton-Smith, J., Chandler, K. (Kate), Tatton-Brown, K. (Katrina), Payne, K. (Katelyn), Helbig, K. (Katherine), Radtke, K. (Kelly), Nugent, K.M. (Kimberly M.), Cremer, K. (Kirsten), Strom, T.M. (Tim), Bird, L.M. (Lynne), Sinnema, M. (Margje), Bitner-Glindzicz, M. (M.), Dooren, M.F. (Marieke) van, Alders, M. (Mariëlle), Koopmans, M. (Marije), Brick, L. (Lauren), Kozenko, M. (Mariya), Harline, M.L. (Megan L.), Klaassens, M. (Merel), Steinraths, M. (Michelle), Cooper, N. (Nicola), Edery, P. (Patrick), Yap, P. (Patrick), Terhal, P. (Paulien), van der Spek, P.J. (Peter J.), Lakeman, P. (Phillis), Taylor, R.L. (Rachel L.), Littlejohn, R.O. (Rebecca Okashah), Pfundt, R. (Rolph), Mercimek-Andrews, S. (Saadet), Stegmann, A.P.A. (Alexander P.A.), Kant, S.G. (Sarina), McLean, S. (Scott), Joss, S. (Shelagh), Swagemakers, S.M.A. (Sigrid), Douzgou, S. (Sofia), Wall, S.A. (Steven), Küry, S. (Sébastien), Calpena, E. (Eduardo), Koelling, N. (Nils), McGowan, S.J. (Simon), Twigg, S.R.F. (Stephen), Mathijssen, I.M.J. (Irene M.J.), Nellaker, C. (Christoffer), Brunner, H.G., Wilkie, A.O.M. (Andrew)

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: facial averaging, haploinsufficiency, intellectual disability, kinase, Tousled-like

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/107127; urn:hdl:1765/107127

الاتاحة: http://repub.eur.nl/pub/107127
https://doi.org/10.1016/j.ajhg.2018.04.014

المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/109920/1/1-s2.0-S0002929718301617-main.pdf; Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; et al. Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Deciphering Developmental Disorders Study; Baralle, D; Blair, EM; Engels, H; Lüdecke, H-J; Eason, J; Santen, GWE; Clayton-Smith, J; Chandler, K; Tatton-Brown, K; Payne, K; Helbig, K; Radtke, K; Nugent, KM; Cremer, K; Strom, TM; Bird, LM; Sinnema, M; Bitner-Glindzicz, M; van Dooren, MF; Alders, M; Koopmans, M; Brick, L; Kozenko, M; Harline, ML; Klaassens, M; Steinraths, M; Cooper, NS; Edery, P; Yap, P; Terhal, PA; van der Spek, PJ; Lakeman, P; Taylor, RL; Littlejohn, RO; Pfundt, R; Mercimek-Andrews, S; Stegmann, APA; Kant, SG; McLean, S; Joss, S; Swagemakers, SMA; Douzgou, S; Wall, SA; Küry, S; Calpena, E; Koelling, N; McGowan, SJ; Twigg, SRF; Mathijssen, IMJ; Nellaker, C; Brunner, HG; Wilkie, AOM (2018) De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet, 102 (6). pp. 1195-1203. ISSN 1537-6605 https://doi.org/10.1016/j.ajhg.2018.04.014 SGUL Authors: Tatton-Brown, Katrina Louise

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/109920/
https://openaccess.sgul.ac.uk/id/eprint/109920/1/1-s2.0-S0002929718301617-main.pdf

المؤلفون: Lüdecke, H.-J., Hempelmann, A., Weiss, C. O.

المصدر: eISSN: 1814-9332

وصف الملف: application/pdf

Relation: https://cp.copernicus.org/articles/9/447/2013/

الاتاحة: https://doi.org/10.5194/cp-9-447-2013
https://cp.copernicus.org/articles/9/447/2013/

المؤلفون: Lüdecke, H.-J., Weiss, C. O., Hempelmann, A.

المصدر: eISSN: 1814-9332

وصف الملف: application/pdf

Relation: https://cp.copernicus.org/preprints/cp-2014-149/

الاتاحة: https://doi.org/10.5194/cpd-11-279-2015
https://cp.copernicus.org/preprints/cp-2014-149/

المؤلفون: Weber, W., Lüdecke, H.-J., Weiss, C. O.

المصدر: eISSN: 2190-4987

وصف الملف: application/pdf

Relation: https://esd.copernicus.org/preprints/esd-2015-63/

الاتاحة: https://doi.org/10.5194/esdd-6-2043-2015
https://esd.copernicus.org/preprints/esd-2015-63/

المؤلفون: Czeschik, Johanna Christina, Voigt, C., Alanay, Yasemin, Albrecht, Beate, Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, Hülya, Simsek-Kiper, Pelin Özlem, Klein-Hitpass, Ludger, Kuechler, Alma, Lopez-Gonzalez, Vanesa, Martin, Marcel, Rahmann, Sven, Schweiger, Bernd, Splitt, M., Wollnik, Bernd, Luedecke, H-J, Zeschnigk, Michael, Wieczorek, Dagmar

المساهمون: Czeschik, Johanna Christina, Voigt, C., Alanay, Yasemin, Albrecht, Beate, Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, Hülya, Simsek-Kiper, Pelin Özlem, Klein-Hitpass, Ludger, Kuechler, Alma, Lopez-Gonzalez, Vanesa, Martin, Marcel, Rahmann, Sven, Schweiger, Bernd, Splitt, M., Wollnik, Bernd, Luedecke, H-J, Zeschnigk, Michael, Wieczorek, Dagmar

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/6975; 000321909000003; 3142320

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/6975
https://doi.org/10.1007/s00439-013-1295-2

المؤلفون: Kuechler, A., Hentschel, J., Kurth, I., Stephan, B., Prott, E.-C., Schweiger, B., Schuster, A., Wieczorek, D., Lüdecke, H.-J.

المصدر: Molecular Syndromology ; volume 3, issue 5, page 223-229 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000343746
https://www.karger.com/Article/Pdf/343746

المؤلفون: Beygo, J., Buiting, K., Seland, S., Lüdecke, H.-J., Hehr, U., Lich, C., Prager, B., Lohmann, D.R., Wieczorek, D.

المصدر: Molecular Syndromology ; volume 2, issue 2, page 53-59 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000335545
https://www.karger.com/Article/Pdf/335545

المؤلفون: Wuyts, Wim, Van Hul, Wim, de Boulle, K., Hendrickx, J., Bakker, E., Vanhoenacker, Filip, Mollica, F., Lüdecke, H.-J., Sayli, B., Pazzaglia, U., Mortier, Geert, Hamel, B., Conrad, E., Matsushita, M., Raskind, W., Willems, P.

المصدر: 0002-9297 ; The American journal of human genetics

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000072416000018

الاتاحة: https://hdl.handle.net/10067/253340151162165141
https://repository.uantwerpen.be/docman/irua/c21ea6/5643.pdf

المؤلفون: Horsthemke, B, Claussen, U, Hesse, S, Lüdecke, H J

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://genome.cshlp.org/cgi/content/short/1/4/229; http://dx.doi.org/10.1101/gr.1.4.229

الاتاحة: http://genome.cshlp.org/cgi/content/short/1/4/229
https://doi.org/10.1101/gr.1.4.229

المؤلفون: Kumar, R., Gardner, A., Homan, C., Douglas, E., Mefford, H., Wieczorek, D., Lüdecke, H.-J., Stark, Z., Sadedin, S., Nowak, C., Douglas, J., Parsons, G., Mark, P., Loidi, L., Herman, G., Mihalic Mosher, T., Gillespie, M., Brady, L., Tarnopolsky, M., Madrigal, I.

المصدر: http://dx.doi.org/10.1002/humu.23557.

مصطلحات موضوعية: Partial loss-of-function variants, mRNA export, protein stability, THOC2, XLID

Relation: http://purl.org/au-research/grants/nhmrc/1091593; http://purl.org/au-research/grants/nhmrc/1041920; Human Mutation, 2018; 39(8):1126-1138; http://hdl.handle.net/2440/113513; Kumar, R. [0000-0001-7976-8386]; Gardner, A. [0009-0009-7321-1697]; Gecz, J. [0000-0002-7884-6861]

الاتاحة: http://hdl.handle.net/2440/113513
https://doi.org/10.1002/humu.23557

المؤلفون: Kuechler, A, Albrecht, B, Legius, Eric, Bramswig, NC, Lüdecke, H-J, Strom, TM, Wieczorek, D, Zenker, M, Wieland, I

Relation: Genetic Counseling vol:27 issue:4 pages:554-554; Twenty-seventh European meeting on Dysmorphology location:Strasbourg, France date:7-9 September 2016; https://lirias.kuleuven.be/handle/123456789/560176

الاتاحة: https://lirias.kuleuven.be/handle/123456789/560176

المؤلفون: Bramswig, Nuria C, Lüdecke, H-J, Pettersson, M, Albrecht, B, Bernier, R A, Cremer, K, Eichler, E E, Falkenstein, D, Gerdts, J, Jansen, S, Kuechler, A, Kvarnung, M, Lindstrand, A, Nilsson, D, Nordgren, A, Pfundt, R, Spruijt, L, Surowy, H M, de Vries, B B A, Wieland, T, Engels, H, Strom, T M, Kleefstra, T, Wieczorek, D

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1441697

الاتاحة: https://mediatum.ub.tum.de/1441697
https://doi.org/10.1007/s00439-016-1743-x

المؤلفون: Bramswig, Nuria C, Caluseriu, O, Lüdecke, H-J, Bolduc, F V, Noel, N C L, Wieland, T, Surowy, H M, Christen, H-J, Engels, H, Strom, T M, Wieczorek, D

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1441665

الاتاحة: https://mediatum.ub.tum.de/1441665
https://doi.org/10.1007/s00439-017-1757-z

المؤلفون: Kölbel, H., Kuechler, A., Strom, T.M., Lüdecke, H.-J., Möller-Hartmann, C., Della-Marina, A., Wieczoreck, D., Schara, U.

المصدر: European Journal of Paediatric Neurology ; volume 21, page e177 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2017.04.997
https://api.elsevier.com/content/article/PII:S1090379817312564?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379817312564?httpAccept=text/plain

المؤلفون: Fryssira, H. Psoni, S. Amenta, S. Tsoutsou, E. Sofocleous, C. Manolakos, E. Gavra, M. Lüdecke, H.-J. Czeschik, J.-C.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::c53c821804ea0b67dc45ef5a66994bd8
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087278

المؤلفون: Parenti, I, Gervasini, C, Pozojevic, J, Wendt, K S, Watrin, E, Azzollini, J, Braunholz, D, Buiting, K, Cereda, A, Engels, H, Garavelli, L, Glazar, R, Graffmann, B, Larizza, L, Lüdecke, H J, Mariani, M, Masciadri, M, Pié, J, Ramos, F J, Russo, S, Selicorni, A, Stefanova, M, Strom, T M, Werner, R, Wierzba, J, Zampino, G, Gillessen-Kaesbach, G, Wieczorek, D, Kaiser, F J

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

Relation: https://mediatum.ub.tum.de/1436937

الاتاحة: https://mediatum.ub.tum.de/1436937
https://doi.org/10.1111/cge.12717

المؤلفون: Bramswig, Nuria C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T., Lüdecke, H.-J.

المساهمون: BMBF

المصدر: Human Genetics ; volume 134, issue 10, page 1089-1097 ; ISSN 0340-6717 1432-1203

الاتاحة: http://dx.doi.org/10.1007/s00439-015-1590-1
http://link.springer.com/content/pdf/10.1007/s00439-015-1590-1.pdf
http://link.springer.com/article/10.1007/s00439-015-1590-1/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00439-015-1590-1