المؤلفون: Vogt, D., Haritoglou, C., Nicoletti, V., Kortuem, F. C., Deiters, V., Hoerauf, H., Wolf, A., Schumann, R. G.

المساهمون: Vogt, D., Haritoglou, C., Nicoletti, V., Kortuem, F. C., Deiters, V., Hoerauf, H., Wolf, A., Schumann, R. G.

Relation: 2118

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/145581
https://doi.org/10.1007/s00347-024-02118-1

المؤلفون: Rots, D., Jakub, T. E., Keung, C., Jackson, A., Banka, S., Pfundt, R., De Vries, B. B. A., Van Jaarsveld, R. H., Hopman, S. M. J., Van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, Francois, Goldenberg, Alice, Hertz, J. M., Andersen, C. B., Kibæk, M., Prijoles, E. J., Stevenson, R. E., Everman, D. B., Patterson, W. G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P. J., Lopez Garcia, M. S., Perrier, R., Sousa, S. B., Almeida, P. M., Simões, M. J., Isidor, Bertrand, Deb, Wallid, Schmanski, A. A., Abdul-Rahman, O., Philippe, Christophe, Bruel, A. L., Faivre, L., Vitobello, A., Thauvin, Christel, Smits, J. J., Garavelli, L., Caraffi, S. G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A. P. A., Stumpel, C. T. R. M., Tiller, G. E., Bosch, D. G. M., Potgieter, S. T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A. G., Freitag, C. M., Satterstrom, F. K., De Rubeis, S., Buxbaum, J., Gelb, B. D., Branko, A., Kushima, I., Howe, J., Scherer, S. W., Arado, A., Baldo, C., Patat, O., Bénédicte, Demeer, Lopergolo, D., Santorelli, F. M., Haack, T. B., Dufke, A., Bertrand, M., Falb, R. J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M. F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M. F., Liebelt, J., Dagli, A. I., Aten, E., Hurst, A. C. E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, Juliette, Nicolas, G., Küpper, H., Petit, Florence, Ibrahim, V., Top, D., Di Cara, F., Louie, R. J., Stolerman, E., Brunner, H. G., Vissers, L. E. L. M., Kramer, J. M., Kleefstra, T.

المساهمون: Université de Lille, CHU Lille, CHU Rouen, Université de Rouen Normandie UNIROUEN, Cancer and Brain Genomics CBG, Service de génétique médicale - Unité de génétique clinique Nantes, Institut du Thorax Nantes, Génétique des anomalies du développement (CTM UMR 1231) GAD, Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) UF6254, Service Génétique Médicale CHU Toulouse, CHU Amiens-Picardie, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

وصف الملف: application/octet-stream

Relation: American Journal of Human Genetics; Am J Hum Genet; http://hdl.handle.net/20.500.12210/84123

الاتاحة: https://hdl.handle.net/20.500.12210/84123

المؤلفون: Kaiyrzhanov, R, Rad, A, Lin, S-J, Bertoli-Avella, A, Kallemeijn, WW, Godwin, A, Zaki, MS, Huang, K, Lau, T, Petree, C, Efthymiou, S, Karimiani, EG, Hempel, M, Normand, EA, Rudnik-Schöneborn, S, Schatz, UA, Baggelaar, MP, Ilyas, M, Sultan, T, Alvi, JR, Ganieva, M, Fowler, B, Aanicai, R, Tayfun, GA, Al Saman, A, Alswaid, A, Amiri, N, Asilova, N, Shotelersuk, V, Yeetong, P, Azam, M, Babaei, M, Monajemi, GB, Mohammadi, P, Samie, S, Banu, SH, Pinto Basto, J, Kortüm, F, Bauer, M, Bauer, P, Beetz, C, Garshasbi, M, Issa, AH, Eyaid, W, Ahmed, H, Hashemi, N, Hassanpour, K, Herman, I, Ibrohimov, S, Abdul-Majeed, BA, Imdad, M, Isrofilov, M, Kaiyal, Q, Khan, S, Kirmse, B, Koster, J, Lourenço, CM, Mitani, T, Moldovan, O, Murphy, D, Najafi, M, Pehlivan, D, Rocha, ME, Salpietro, V, Schmidts, M, Shalata, A, Mahroum, M, Talbeya, JK, Taylor, RW, Vazquez, D, Vetro, A, Waterham, HR, Zaman, M, Schrader, TA, Chung, WK, Guerrini, R, Lupski, JR, Gleeson, J, Suri, M, Jamshidi, Y, Bhatia, KP, Vona, B, Schrader, M, Severino, M, Guille, M, Tate, EW, Varshney, GK, Houlden, H, Maroofian, R

وصف الملف: application/pdf; application/zip

Relation: https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdf; https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zip; https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf; Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; et al. Kaiyrzhanov, R; Rad, A; Lin, S-J; Bertoli-Avella, A; Kallemeijn, WW; Godwin, A; Zaki, MS; Huang, K; Lau, T; Petree, C; Efthymiou, S; Karimiani, EG; Hempel, M; Normand, EA; Rudnik-Schöneborn, S; Schatz, UA; Baggelaar, MP; Ilyas, M; Sultan, T; Alvi, JR; Ganieva, M; Fowler, B; Aanicai, R; Tayfun, GA; Al Saman, A; Alswaid, A; Amiri, N; Asilova, N; Shotelersuk, V; Yeetong, P; Azam, M; Babaei, M; Monajemi, GB; Mohammadi, P; Samie, S; Banu, SH; Pinto Basto, J; Kortüm, F; Bauer, M; Bauer, P; Beetz, C; Garshasbi, M; Issa, AH; Eyaid, W; Ahmed, H; Hashemi, N; Hassanpour, K; Herman, I; Ibrohimov, S; Abdul-Majeed, BA; Imdad, M; Isrofilov, M; Kaiyal, Q; Khan, S; Kirmse, B; Koster, J; Lourenço, CM; Mitani, T; Moldovan, O; Murphy, D; Najafi, M; Pehlivan, D; Rocha, ME; Salpietro, V; Schmidts, M; Shalata, A; Mahroum, M; Talbeya, JK; Taylor, RW; Vazquez, D; Vetro, A; Waterham, HR; Zaman, M; Schrader, TA; Chung, WK; Guerrini, R; Lupski, JR; Gleeson, J; Suri, M; Jamshidi, Y; Bhatia, KP; Vona, B; Schrader, M; Severino, M; Guille, M; Tate, EW; Varshney, GK; Houlden, H; Maroofian, R (2024) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain, 147 (4). pp. 1436-1456. ISSN 1460-2156 https://doi.org/10.1093/brain/awad380 SGUL Authors: Jamshidi, Yalda

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115881/
https://openaccess.sgul.ac.uk/id/eprint/115881/6/awad380.pdf
https://openaccess.sgul.ac.uk/id/eprint/115881/14/awad380_supplementary_data.zip
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf
https://doi.org/10.1093/brain/awad380

Alternate Title: Current treatment strategies for vitreomacular traction and macular holes: a survey of retinal specialists in Germany. (English)

المؤلفون: Vogt, D., Haritoglou, C., Nicoletti, V., Kortuem, F. C., Deiters, V., Hoerauf, H., Wolf, A., Schumann, R. G.

المصدر: Die Ophthalmologie; Dec2024, Vol. 121 Issue 12, p973-984, 12p

المؤلفون: Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

المصدر: Genetics in Medicine , 25 (8) , Article 100885. (2023)

مصطلحات موضوعية: Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdf; https://discovery.ucl.ac.uk/id/eprint/10173027/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173027/1/RHOBTB_manuscript_230331_without%20trackchanges.docx.pdf
https://discovery.ucl.ac.uk/id/eprint/10173027/

المؤلفون: Morimoto, M., Ryu, E., Steger, B. J., Dixit, A., Saito, Y., Yoo, J., van der Ven, A. T., Hauser, N., Steinbach, P. J., Oura, K., Huang, A. Y., Kortüm, F., Ninomiya, S., Rosenthal, E. A., Robinson, H. K., Guegan, K., Denecke, J., Subramony, S. H., Diamonstein, C. J., Ping, J., Fenner, M., Balton, E. V., Strohbehn, S., Allworth, A., Bamshad, M. J., Gandhi, M., Dipple, K. M., Blue, E. E., Jarvik, G. P., Lau, C. C., Holm, I. A., Weisz-Hubshman, M., Solomon, B. D., Nelson, S. F., Nishino, I., Adams, D. R., Kang, S., Gahl, W. A., Toro, C., Myung, K., Malicdan, M. C. V.

المساهمون: Exeter Genomics Laboratory, Robinson, Hannah K, Guegan, Katie

مصطلحات موضوعية: Humans, Replication Protein C/genetics/metabolism, Male, HeLa Cells, Female, Phenotype, DNA Replication/genetics, Adult, Mutation, Proliferating Cell Nuclear Antigen/metabolism/genetics, Alleles, DNA replication, Mendelian disorder, gene discovery, rare disease, replication factor C complex, translational research

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(24)00252-0; American journal of human genetics; PMC11393705; https://hdl.handle.net/11287/623375

الاتاحة: https://hdl.handle.net/11287/623375
https://doi.org/10.1016/j.ajhg.2024.07.008

المؤلفون: Martin-Almedina, S, Ogmen, K, Sackey, E, Grigoriadis, D, Karapouliou, C, Nadarajah, N, Ebbing, C, Lord, J, Mellis, R, Kortuem, F, Dinulos, MB, Polun, C, Bale, S, Atton, G, Robinson, A, Reigstad, H, Houge, G, von der Wense, A, Becker, W-H, Jeffery, S, Mortimer, PS, Gordon, K, Josephs, KS, Robart, S, Kilby, MD, Vallee, S, Gorski, JL, Hempel, M, Berland, S, Mansour, S, Ostergaard, P

المصدر: Genetics in Medicine (2021) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10126941/1/s41436-021-01136-7.pdf; https://discovery.ucl.ac.uk/id/eprint/10126941/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10126941/1/s41436-021-01136-7.pdf
https://discovery.ucl.ac.uk/id/eprint/10126941/

المؤلفون: van der Ven, A.T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S.B., Prokisch, H., Kubisch, C., Denecke, J., Santer, R., Hempel, M.

المصدر: Clin. Genet., DOI:10.1111/cge.14061 (2021)

مصطلحات موضوعية: Child Development Disorders, Early Diagnosis, Medical Genetics, Mitochondria, Whole Exome Sequencing

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34490615; info:eu-repo/semantics/altIdentifier/wos/WOS:000697151400001; info:eu-repo/semantics/altIdentifier/isbn/0009-9163; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62949; urn:isbn:0009-9163; urn:issn:0009-9163; urn:issn:1399-0004

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62949
https://doi.org/10.1111/cge.14061

المؤلفون: Kortüm, F., Kieninger, S., Mazzola, P., Kohl, S., Wissinger, B., Prokisch, H., Stingl, K., Weisschuh, N.

المصدر: Int. J. Mol. Sci. 22:850 (2021)

مصطلحات موضوعية: Rpgr, X-linked, In Vitro Splice Assay, Non-canonical Splice Site Variant, Retinitis Pigmentosa

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/33467000; info:eu-repo/semantics/altIdentifier/wos/WOS:000611889200001; info:eu-repo/semantics/altIdentifier/isbn/1422-0067; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085; urn:isbn:1422-0067; urn:issn:1422-0067; urn:issn:1661-6596

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61085
https://doi.org/10.3390/ijms22020850

المؤلفون: Kortuem, C., Abaza, A., Schramm, C., Kortuem, F.

المساهمون: Universitätsklinikum Tübingen

المصدر: Der Ophthalmologe ; volume 119, issue 4, page 403-406 ; ISSN 0941-293X 1433-0423

الاتاحة: http://dx.doi.org/10.1007/s00347-021-01371-y
https://link.springer.com/content/pdf/10.1007/s00347-021-01371-y.pdf
https://link.springer.com/article/10.1007/s00347-021-01371-y/fulltext.html

المؤلفون: Mahler, E.A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T.B., Strom, T.M., Kortüm, F., Meitinger, T., Muntau, A.C., Santer, R., Kubisch, C., Lessel, D., Denecke, J., Hempel, M.

المصدر: Dtsch. Arztebl. Int. 116, 197-204 (2019)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/31056085; info:eu-repo/semantics/altIdentifier/wos/WOS:000466985200002; info:eu-repo/semantics/altIdentifier/isbn/1866-0452; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55987; urn:isbn:1866-0452; urn:issn:1866-0452

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55987
https://doi.org/10.3238/arztebl.2019.0197

المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.

المصدر: Eur. J. Hum. Genet. 27, 278-290 (2019)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30291340; info:eu-repo/semantics/altIdentifier/wos/WOS:000455983900013; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54514; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54514
https://doi.org/10.1038/s41431-018-0281-5

المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R., de Vries, B.B.A., van Jaarsveld, R.H., Hopman, S.M.J., van Binsbergen, E., Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., De Dios, K., Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L., Sinnema, M., Stegmann, A.P.A., Stumpel, C.T.R.M., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., De Rubeis, S., Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Di Cara, F., Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.

المصدر: Am. J. Hum. Genet. 110, 963-978 (2023)

مصطلحات موضوعية: Compass, Drosophila, Kdm6b, Mendelian Disorders, De Novo Variants, Missense Variants, Neurodevelopmental Disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/37196654; info:eu-repo/semantics/altIdentifier/wos/001069581900001; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/alt

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=67926
https://doi.org/10.1016/j.ajhg.2023.04.008

المؤلفون: Aerden, M., Denommé-Pichon, A.S., Bonneau, D., Bruel, A.L., Delanne, J., Gérard, B., Mazel, B., Philippe, C., Pinson, L., Prouteau, C., Putoux, A., Mau-Them, F.T., Viora-Dupont, E., 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., Haelst, M. van, 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., Torring, P.M., Renieri, A., Bruno, L.P., Ounap, K., Wojcik, M., Hsieh, T.C., Krawitz, P., Esch, H. van

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://www.nature.com/articles/s41431-023-01307-x; lumc-id: 185870270; https://hdl.handle.net/1887/3750384

الاتاحة: https://hdl.handle.net/1887/3750384
https://www.nature.com/articles/s41431-023-01307-x
https://doi.org/10.1038/s41431-023-01307-x

المؤلفون: Hensen, F., Stark, V. C., Diaz-Gil, D., Kortüm, F., Kozlik-Feldmann, R., Kutsche, K., Olfe, J., Mir, T. S.

المصدر: The Thoracic and Cardiovascular Surgeon ; The 54th Annual Meeting of the German Society for Pediatric Cardiology (DGPK) ; ISSN 1439-1902

الاتاحة: http://dx.doi.org/10.1055/s-0042-1742982
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0042-1742982

المؤلفون: Knaus, A. (Alexej), Pantel, J.T. (Jean Tori), Pendziwiat, M. (Manuela), Hajjir, N. (Nurulhuda), Zhao, M. (Max), Hsieh, T.-C. (Tzung-Chien), Schubach, M. (Max), Gurovich, Y. (Yaron), Fleischer, N. (Nicole), Jäger, M. (Marten), Köhler, S. (Sebastian), Muhle, H. (Hiltrud), Korff, C. (Christian), Møller, R.S. (Rikke S.), Bayat, A. (Allan), Calvas, P. (Patrick), Chassaing, N. (Nicolas), Warren, H. (Hannah), Skinner, S. (Steven), Louie, R. (Raymond), Evers, C. (Christina), Bohn, M. (Marc), Christen, H.-J. (Hans-Jürgen), Born, M. (Myrthe) van den, Obersztyn, E. (Ewa), Charzewska, A. (Agnieszka), Endziniene, M. (Milda), Kortüm, F. (Fanny), Brown, N. (Natasha), Robinson, P.N. (Peter N.), Schelhaas, H.J. (Helenius), Weber, Y. (Yvonne), Helbig, I. (Ingo), Mundlos, S. (Stefan), Horn, D. (Denise), Krawitz, P.

المصدر: Genome Medicine vol. 10 no. 1

مصطلحات موضوعية: Anchor biosynthesis defects, Automated image analysis, Gene, GPI, Prediction

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/104057; urn:hdl:1765/104057

الاتاحة: http://repub.eur.nl/pub/104057
https://doi.org/10.1186/s13073-017-0510-5

المؤلفون: Knaus, A, Pantel, JT, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T-C, Schubach, M, Gurovich, Y, Fleischer, N, Jaeger, M, Koehler, S, Muhle, H, Korff, C, Moller, RS, Bayat, A, Calvas, P, Chassaing, N, Warren, H, Skinner, S, Louie, R, Evers, C, Bohn, M, Christen, H-J, van den Born, M, Obersztyn, E, Charzewska, A, Endziniene, M, Kortuem, F, Brown, N, Robinson, PN, Schelhaas, HJ, Weber, Y, Helbig, I, Mundlos, S, Horn, D, Krawitz, PM

Relation: pii: 10.1186/s13073-017-0510-5; Knaus, A., Pantel, J. T., Pendziwiat, M., Hajjir, N., Zhao, M., Hsieh, T. -C., Schubach, M., Gurovich, Y., Fleischer, N., Jaeger, M., Koehler, S., Muhle, H., Korff, C., Moller, R. S., Bayat, A., Calvas, P., Chassaing, N., Warren, H., Skinner, S. ,. Krawitz, P. M. (2018). Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. GENOME MEDICINE, 10 (1), https://doi.org/10.1186/s13073-017-0510-5.; http://hdl.handle.net/11343/305965

الاتاحة: http://hdl.handle.net/11343/305965

المؤلفون: Demal, T. J., Reichenspurner, H., Schüler, H., Wey-Fabrizius, A., Kortüm, F., Rau, I., Kutsche, M., Kubisch, C., Mir, T. S., Kutsche, K., Von Kodolitsch, Y., Rosenberger, G.

المصدر: The Thoracic and Cardiovascular Surgeon ; 50th Annual Meeting of the German Society for Thoracic and Cardiovascular Surgery (DGTHG) ; ISSN 1439-1902

الاتاحة: http://dx.doi.org/10.1055/s-0041-1725681
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1725681

المؤلفون: Kim, J.-H. (Jung-Hyun), Shinde, D.N. (Deepali N.), Reijnders, M.R.F. (Margot R.F.), Hauser, N.S. (Natalie S.), Belmonte, R.L. (Rebecca L.), Wilson, G.R. (Gregory R.), Bosch, D.G.M. (Daniëlle G.M.), Bubulya, P.A. (Paula A.), Shashi, V. (Vandana), Petrovski, S. (Slavé), Stone, J.K. (Joshua K.), Park, E.Y. (Eun Young), Veltman, J.A. (Joris), Sinnema, M. (Margje), Stumpel, C. (Connie), Draaisma, J. (Jos), Nicolai, J. (Joost), Yntema, H.G., Lindstrom, K. (Kristin), Vries, B. (Boukje) de, Jewett, T. (Tamison), Santoro, S.L. (Stephanie L.), Vogt, J. (Julie), Bachman, K.K. (Kristine K.), Seeley, A.H. (Andrea ), Krokosky, A. (Alyson), Turner, C. (Clesson), Rohena, L. (Luis), Hempel, M. (Maja), Kortüm, F. (Fanny), Lessel, D. (Davor), Neu, A. (Axel), Strom, T.M. (Tim), Wieczorek, D. (Dagmar), Bramswig, N. (Nuria), Laccone, F.A. (Franco A.), Behunova, J. (Jana), Rehder, H. (Helga), Gordon, C.T. (Christopher T.), Rio, M. (Marlène), Romana, S. (Serge), Tang, S. (Sha), El-Khechen, D. (Dima), Cho, M.T. (Megan T.), McWalter, K. (Kirsty), Douglas, G. (Ganka), Baskin, B. (Berivan), Begtrup, A. (Amber), Funari, T. (Tara), Schoch, K. (Kelly), Stegmann, A.P.A. (Alexander P.A.), Stevens, S.J., Zhang, D.-E. (Dong-Er), Traver, D. (David), Yao, X. (Xu), MacArthur, D.G. (Daniel G.), Brunner, H.G., Mancini, G.M.S. (Grazia), Myers, R.H. (Richard), Owen, L.B. (Laurie B.), Lim, S.-T. (Ssang-Taek), Stachura, D.L. (David L.), Vissers, L.E.L.M., Ahn, E.-Y.E. (Eun-Young Erin)

المصدر: American Journal of Human Genetics

Relation: http://repub.eur.nl/pub/95565; urn:hdl:1765/95565

الاتاحة: http://repub.eur.nl/pub/95565
https://doi.org/10.1016/j.ajhg.2016.06.029

المؤلفون: Shashi, V, Pena, LD, Kim, K, Burton, B, Hempel, M, Schoch, K, Walkiewicz, M, McLaughlin, HM, Cho, M, Stong, N, Hickey, SE, Shuss, CM, Undiagnosed Diseases Network, Freemark, MS, Bellet, JS, Keels, MA, Bonner, MJ, El-Dairi, M, Butler, M, Kranz, PG, Stumpel, CT, Klinkenberg, S, Oberndorff, K, Alawi, M, Santer, R, Petrovski, S, Kuismin, O, Korpi-Heikkilä, S, Pietilainen, O, Aarno, P, Kurki, MI, Hoischen, A, Need, AC, Goldstein, DB, Kortüm, F

المصدر: 999 ; 991

مصطلحات موضوعية: ASXL2, developmental delay, glabellar nevus flammeus, intellectual disability, macrocephaly, whole-exome sequencing, Genetics & Heredity, 06 Biological Sciences, 11 Medical And Health Sciences

Relation: American Journal of Human Genetics; http://hdl.handle.net/10044/1/41685; http://dx.doi.org/10.1016/j.ajhg.2016.08.017

الاتاحة: http://hdl.handle.net/10044/1/41685
https://doi.org/10.1016/j.ajhg.2016.08.017