المؤلفون: Acuna-Hidalgo, R, Schanze, D, Kariminejad, A, Nordgren, A, Kariminejad, MH, Conner, P, Grigelioniene, G, Nilsson, D, Nordenskjold, M, Wedell, A, Freyer, C, Wredenberg, A, Wieczorek, D, Gillessen-Kaesbach, G, Kayserili, H, Elcioglu, N, Ghaderi-Sohi, S, Goodarzi, P, Setayesh, H, van de Vorst, M, Steehouwer, M, Pfundt, R, Krabichler, B, Curry, C, MacKenzie, MG, Boycott, KM, Gilissen, C, Janecke, AR, Hoischen, A, Zenker, M

المصدر: American journal of human genetics. 95(3):285-293

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129677577

المؤلفون: Heinz-Erian, P, Muller, T, Krabichler, B, Schranz, M, Becker, C, Ruschendorf, F, Nurnberg, P, Rossier, B, Vujic, M, Booth, IW, Holmberg, C, Wijmenga, C, Grigelioniene, G, Kneepkens, CMF, Rosipal, S, Mistrik, M, Kappler, M, Michaud, L, Doczy, LC, Siu, VM, Krantz, M, Zoller, H, Utermann, G, Janecke, AR

المصدر: American journal of human genetics. 84(2):188-196

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:118352439

المؤلفون: Lima Cunha, D., Alakloby, O.M., Gruber, R., Kakar, N., Ahmad, J., Alawbathani, S., Plank, R., Eckl, K., Krabichler, B., Altmüller, J., Nürnberg, P., Zschocke, J., Borck, G., Schmuth, M., Alabdulkareem, A.S., Abdulaziz Alnutaifi, K., Hennies, H.C.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/20559/1/20559oa.pdf; http://edoc.mdc-berlin.de/20559/7/20559suppl.zip; Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Lima Cunha, D. and Alakloby, O.M. and Gruber, R. and Kakar, N. and Ahmad, J. and Alawbathani, S. and Plank, R. and Eckl, K. and Krabichler, B. and Altmüller, J. and Nürnberg, P. and Zschocke, J. and Borck, G. and Schmuth, M. and Alabdulkareem, A.S. and Abdulaziz Alnutaifi, K. and Hennies, H.C. Molecular Genetics & Genomic Medicine 7 (3): e539. March 2019

الاتاحة: http://edoc.mdc-berlin.de/20559/
https://edoc.mdc-berlin.de/20559/
http://edoc.mdc-berlin.de/20559/1/20559oa.pdf
http://edoc.mdc-berlin.de/20559/7/20559suppl.zip
https://doi.org/10.1002/mgg3.539

المؤلفون: Pabinger, S., Dander, A., Fischer, M., Snajder, R., Sperk, M., Efremova, M., Krabichler, B., Speicher, M. R., Zschocke, J., Trajanoski, Z.

المصدر: Briefings in Bioinformatics ; volume 15, issue 2, page 256-278 ; ISSN 1467-5463 1477-4054

الاتاحة: http://dx.doi.org/10.1093/bib/bbs086
http://academic.oup.com/bib/article-pdf/15/2/256/556047/bbs086.pdf

المؤلفون: Baumann, M., Schreiber, H., Schlotter-Weigel, B., Löscher, W.N., Stucka, R., Karall, D., Strom, T.M., Bauer, P., Krabichler, B., Fauth, C., Glaeser, D., Senderek, J.

المصدر: Clin. Genet. 95, 182-186 (2018)

مصطلحات موضوعية: Axonal Sensorimotor Polyneuropathy, Mitochondrial Dna Depletion Syndrome 6, Mpv17, Mtdps6, Navajo Neurohepatopathy, Nnh

Relation: info:eu-repo/semantics/altIdentifier/pmid/30298599; info:eu-repo/semantics/altIdentifier/wos/WOS:000453219300018; info:eu-repo/semantics/altIdentifier/isbn/0009-9163; info:eu-repo/semantics/altIdent

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=54485
https://doi.org/10.1111/cge.13462

المؤلفون: Alhaddad, B., Schossig, A., Haack, T.B., Kovács-Nagy, R., Braunisch, M.C., Makowski, C., Senderek, J., Vill, K., Müller-Felber, W., Strom, T.M., Krabichler, B., Freisinger, P., Deshpande, C., Polster, T., Wolf, N.I., Desguerre, I., Wörmann, F., Rötig, A., Ahting, U., Kopajtich, R., Prokisch, H., Meitinger, T., Feichtinger, R.G., Mayr, J.A., Jungbluth, H., Hubmann, M., Zschocke, J., Distelmaier, F., Koch, J.

المصدر: Neuropediatrics 49, 330-338 (2018)

مصطلحات موضوعية: Prune1 Deficiency, Microcephaly, Refractory Epilepsy, Spasticity, Developmental Delay

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000444453000006; info:eu-repo/semantics/altIdentifier/isbn/0174-304X; info:eu-repo/semantics/altIdentifier/pissn/0174-304X; info:eu-repo/semantics/a

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=53868
https://doi.org/10.1055/s-0038-1661396

المؤلفون: Fauth C., Baumann M., Giunta C., Krabichler B., Rüschendorf F., Bönnemann C. G., Bittner R. E., Quijano Roy S., Romero N. B., Carlier R. Y., Muntoni F., Cirak S., Schreiber G., Amberger A., Deutschmann A., Straub V., Rohrbach M., Rostásy K., Karall D., ZschockeJ, COLOMBI, Marina, ZOPPI, Nicoletta

المساهمون: Fauth C., Baumann M., Giunta C., Krabichler B., Rüschendorf F., Bönnemann C. G., Bittner R. E., Colombi Marina, Zoppi Nicoletta, Quijano Roy S., Romero N. B., Carlier R. Y., Muntoni F., Cirak S., Schreiber G., Amberger A., Deutschmann A., Straub V., Rohrbach M., Rostásy K., Karall D., Zschockej

مصطلحات موضوعية: Myopathy, Ehlers-Danlos syndrome

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000309837800556; ispartofbook:J Inherit Metab Dis; SSIEM (Society for the Study of Inborn Errors of Metabolism) Annual Symposium; volume:34; firstpage:-O064; lastpage:-O064; http://hdl.handle.net/11379/69047

الاتاحة: http://hdl.handle.net/11379/69047

المؤلفون: Schossig, A., Bloch-Zupan, A., Lussi, A., Wolf, N.I., Raskin, S., Cohen, M., Giuliano, F., Jurgens, J., Krabichler, B., Koolen, D.A., Sobreira, N.L., Maurer, E., Muller-Bolla, M., Penzien, J., Zschocke, J., Kapferer-Seebacher, I.

المصدر: Journal of Medical Genetics, 54, 1, pp. 54-62

مصطلحات موضوعية: Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences

Relation: http://hdl.handle.net/2066/169816

الاتاحة: http://hdl.handle.net/2066/169816
https://doi.org/10.1136/jmedgenet-2016-103988

المؤلفون: Baumann, M., Steichen‐Gersdorf, E., Krabichler, B., Müller, T., Janecke, A.R.

المصدر: Clinical Genetics ; volume 92, issue 1, page 86-90 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12967
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12967
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12967

المؤلفون: Baumann, M, GIUNTA, Cecilia, Krabichler, B, Rüschendorf, F, Zoppi, N, Colombi, M, Bittner, RE, Quijano-Roy, S, Muntoni, F, Cirak, S, Schreiber, G, Zou, Y, Hu,Y, Romero, NB, Carlier, RY, Amberger, A, Deutschmann, A, Straub, V, Rohrbach, M, Steinmann, B, Rostásy, K, Karall, D, Bönnemann, CG, Zschocke, J, Fauth, C.

المساهمون: Baumann M, Giunta Cecilia, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner Re, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero Nb, Carlier Ry, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann Cg, Zschocke J, Fauth C.

مصطلحات موضوعية: sindrome di Ehlers-Danlo, miopatia, ipoacusia, gene FKBP14, matrice extracellulare

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200002; volume:90; issue:2; firstpage:201; lastpage:216; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11379/127140; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84862780507

الاتاحة: http://hdl.handle.net/11379/127140
https://doi.org/10.1016/j.ajhg.2011.12.004

المؤلفون: Rostasy, K, Fauth, C, Gautsch, K, Laimer, I, Krabichler, B, Wimmer, K, Frühmesser, A, Kotzot, D, Moshir, S

المصدر: Clinical Genetics ; volume 83, issue 3, page 284-287 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/j.1399-0004.2012.01881.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2012.01881.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2012.01881.x

المؤلفون: Baumann, M, Haberlandt, E, Spreiz, A, Krabichler, B, Kotzot, D, Zschocke, J, Fauth, C

المصدر: Neuropediatrics ; volume 44, issue 02 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0033-1337770
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1337770

المؤلفون: Baumann M, Giunta C, Krabichler B, Ruschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou YQ, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostasy K, Karall D, Bonnemann CG, Zschocke J, Fauth C

المصدر: American Journal of Human Genetics, 09-01-2012

Relation: https://eprints.ncl.ac.uk/196882

الاتاحة: https://eprints.ncl.ac.uk/196882

المؤلفون: Baumann, M, Giunta, C, Bönnemann, C, Quijano-Roy, S, Muntoni, F, Cirak, S, Schreiber, G, Bittner, R, Colombi, M, Rohrbach, M, Steinmann, B, Rostásy, K, Krabichler, B, Zschocke, J, Fauth, C

المصدر: Neuropediatrics ; volume 43, issue 02 ; ISSN 0174-304X 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0032-1307058
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1307058

المؤلفون: Dündar, M, Müller, T, Zhang, Q, Pan, J, Steinmann, B, Vodopiutz, J, Gruber, R, Sonoda, T, Krabichler, B, Utermann, G, Baenziger, J U, Zhang, L, Janecke, A R

المصدر: Dündar, M; Müller, T; Zhang, Q; Pan, J; Steinmann, B; Vodopiutz, J; Gruber, R; Sonoda, T; Krabichler, B; Utermann, G; Baenziger, J U; Zhang, L; Janecke, A R (2009). Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. American Journal of Human Genetics, 85(6):873-882.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/41714/9/Loss1.pdf; info:pmid/20004762; urn:issn:0002-9297

الاتاحة: https://www.zora.uzh.ch/id/eprint/41714/
https://www.zora.uzh.ch/id/eprint/41714/9/Loss1.pdf
https://doi.org/10.1016/j.ajhg.2009.11.010

المؤلفون: Fauth, C., Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Bönnemann, C. G., Bittner, R. E., Colombi, Marina, Zoppi, Nicoletta, Quijano Roy, S., Romero, N. B., Carlier, R. Y., Muntoni, F., Cirak, S., Schreiber, G., Amberger, A., Deutschmann, A., Straub, V., Rohrbach, M., Rostásy, K., Karall, D., Zschockej

مصطلحات موضوعية: Myopathy, Ehlers-Danlos syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3662::1495b881e5b8bfd0f395ff432ff20440
http://hdl.handle.net/11379/69047

المؤلفون: Acuna Hidalgo, R., Schanze, D., Kariminejad, A., Nordgren, A., Kariminejad, M.H., Conner, P., Grigelioniene, G., Nilsson, D., Nordenskjold, M., Wedell, A., Freyer, C., Wredenberg, A., Wieczorek, D., Gillessen-Kaesbach, G., Kayserili, H., Elcioglu, N., Ghaderi-Sohi, S., Goodarzi, P., Setayesh, H., Vorst, M. van de, Steehouwer, M., Pfundt, R.P., Krabichler, B., Curry, C., MacKenzie, M.G., Boycott, K.M., Gilissen, C., Janecke, A.R., Hoischen, A., Zenker, M.

المصدر: American Journal of Human Genetics; 285; 293; 0002-9297; 3; vol. 95; ~American Journal of Human Genetics~285~293~~~0002-9297~3~95~~

URL: http://hdl.handle.net/2066/136372