المؤلفون: Merino-Martinez, R, Norlin, L, van Enckevort, D, Anton, G, Schuffenhauer, S, Silander, K, Mook, L, Holub, P, Bild, R, Swertz, M, Litton, JE

المصدر: Biopreservation and biobanking. 14(4):298-306

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134102503

المؤلفون: Korenberg, J. R., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham,, J. M., Hudgins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1994 May . 91(11), 4997-5001.

URL الوصول: https://www.jstor.org/stable/2364898

المؤلفون: Wichmann, HE, Kuhn, KA, Waldenberger, M, Schmelcher, D, Schuffenhauer, S, Meitinger, T, Wurst, SHR, Lamla, G, Fortier, I, Burton, PR, Peltonen, L, Perola, M, Metspalu, A, Riegman, P, Landegren, U, Taussig, MJ, Litton, JE, Fransson, MN, Eder, J, Cambon-Thomsen, A, Bovenberg, J, Dagher, G, van Ommen, GJ, Griffith, M, Yuille, M, Zatloukal, K

المصدر: Nature biotechnology. 29(9):795-797

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123212531

المؤلفون: Lichtner, P., Attie-Bitach, T., Schuffenhauer, S., Henwood, J., Bouvagnet, P., Scambler, P.J., Meitinger, T., Vekemans, M.

المصدر: J. Mol. Med. 80, 431-442 (2002)

مصطلحات موضوعية: Partial monosomy 10p, DiGeorge syndrome, HDR syndrome, BRUNOL3, In situ hybridization

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/0946-2716; info:eu-repo/semantics/altIdentifier/pissn/0946-2716; info:eu-repo/semantics/altIdentifier/eissn/1432-1440; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=10055; urn:isbn:0946-2716; urn:issn:0946-2716; urn:issn:1432-1440

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=10055

المؤلفون: Robinson, Wendy P, Kuchinka, B D, Bernasconi, Fabiana, Petersen, Michael B, Schulze, A, Brondum-Nielsen, K, Christian, S L, Ledbetter, D H, Schinzel, Albert, Horsthemke, Bernhard, Schuffenhauer, S, Michaelis, R C, Langlois, S, Hassold, T J

المصدر: Robinson, Wendy P; Kuchinka, B D; Bernasconi, Fabiana; Petersen, Michael B; Schulze, A; Brondum-Nielsen, K; Christian, S L; Ledbetter, D H; Schinzel, Albert; Horsthemke, Bernhard; Schuffenhauer, S; Michaelis, R C; Langlois, S; Hassold, T J (1998). Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Human Molecular Genetics, 7(6):1011-1019.

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

Time: 142-005

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/154639/1/ZORA_NL_154639.pdf; info:pmid/9580665; urn:issn:0964-6906

الاتاحة: https://www.zora.uzh.ch/id/eprint/154639/
https://www.zora.uzh.ch/id/eprint/154639/1/ZORA_NL_154639.pdf
https://doi.org/10.1093/hmg/7.6.1011

المؤلفون: Ryan, A K, Goodship, J A, Wilson, D I, Philip, N, Levy, A, Seidel, H, Schuffenhauer, S, Oechsler, H, Belohradsky, B, Prieur, M, Aurias, A, Raymond, F L, Clayton-Smith, J, Hatchwell, E, McKeown, C, Beemer, F A, Dallapiccola, B, Novelli, G, Hurst, J A, Ignatius, J, Green, A J, Winter, R M, Brueton, L, Brøndum-Nielsen, K, Scambler, P J

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/34/10/798; http://dx.doi.org/10.1136/jmg.34.10.798

الاتاحة: http://jmg.bmj.com/cgi/content/short/34/10/798
https://doi.org/10.1136/jmg.34.10.798

المؤلفون: Golla, A, Lichmer, P, von Gernet, S, Winterpacht, A, Fairley, J, Murken, J, Schuffenhauer, S

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/34/8/683; http://dx.doi.org/10.1136/jmg.34.8.683

الاتاحة: http://jmg.bmj.com/cgi/content/short/34/8/683
https://doi.org/10.1136/jmg.34.8.683

المؤلفون: Petropoulou, Th, Weiss, M, Schuffenhauer, S, Rost, I, Belohradsky, B H

المصدر: Pediatric Research ; volume 41, issue 5, page 756-756 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199705000-00089

المؤلفون: Meindl, A, Hosenfeld, D, Bruckl, W, Schuffenhauer, S, Jenderny, J, Bacskulin, A, Oppermann, H C, Swensson, O, Bouloux, P, Meitinger, T

المصدر: Journal of Medical Genetics ; volume 30, issue 10, page 838-842 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.10.838
https://syndication.highwire.org/content/doi/10.1136/jmg.30.10.838

المؤلفون: Callen, D F, Eyre, H, Lane, S, Shen, Y, Hansmann, I, Spinner, N, Zackai, E, McDonald-McGinn, D, Schuffenhauer, S, Wauters, J

المصدر: Journal of Medical Genetics ; volume 30, issue 10, page 828-832 ; ISSN 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.30.10.828
https://syndication.highwire.org/content/doi/10.1136/jmg.30.10.828

المؤلفون: Schuffenhauer, S., Neitzel, H., Heger, S., Hiort, O.

المصدر: Pädiatrie ; page 1-21 ; ISBN 9783642546716

الاتاحة: http://dx.doi.org/10.1007/978-3-642-54671-6_41-1
https://link.springer.com/content/pdf/10.1007/978-3-642-54671-6_41-1

المؤلفون: Kuhn, K.A., Bild, R., Anton, G., Schuffenhauer, S., Wichmann, H.-E.

المصدر: Bundesgesundheitsbl.-Gesund. 59, 385-389 (2016)

مصطلحات موضوعية: Biobanks, Biosamples, It-system, Lpc

Relation: info:eu-repo/semantics/altIdentifier/pmid/26809823; info:eu-repo/semantics/altIdentifier/wos/WOS:000371026000013; info:eu-repo/semantics/altIdentifier/isbn/1436-9990; info:eu-repo/semantics/

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=47769
https://doi.org/10.1007/s00103-015-2300-9

المؤلفون: Van Esch, H, Groenen, P, Nesbit, M, Schuffenhauer, S, Lichtner, P, Vanderlinden, G, Harding, B, Beetz, R, Bilous, R, Holdaway, I, Shaw, N, Fryns, J, Van de Ven, W, Thakker, R, Devriendt, K

Relation: https://ora.ox.ac.uk/objects/uuid:e561af0a-55ae-4b61-a313-f961edb1b50f; https://doi.org/10.1038/35019088

الاتاحة: https://doi.org/10.1038/35019088
https://ora.ox.ac.uk/objects/uuid:e561af0a-55ae-4b61-a313-f961edb1b50f

المؤلفون: Robinson, W. P., Kuchinka, B. D., Bernasconi, F., Petersen, M. B., Schulze, A., Brøndum-Nielsen, K., Christian, S. L., Ledbetter, D. H., Schinzel, A. A., Horsthemke, B., Schuffenhauer, S., Michaelis, R. C., Langlois, S., Hassold, T. J.

URL: http://doc.rero.ch/record/296786/files/7-6-1011.pdf

المؤلفون: Schuffenhauer, S.

المصدر: Pädiatrie ; page 266-278 ; ISBN 9783662091777 9783662091760

الاتاحة: http://dx.doi.org/10.1007/978-3-662-09176-0_30
http://link.springer.com/content/pdf/10.1007/978-3-662-09176-0_30

المؤلفون: KAMNASARAN D, O’BRIEN PCM, SCHUFFENHAUER S, LUPSKI JR, FERGUSON SMITH MA, COX DW, GRAMMATICO, Paola

المساهمون: Kamnasaran, D, O’Brien, Pcm, Schuffenhauer, S, Lupski, Jr, Grammatico, Paola, FERGUSON SMITH, Ma, Cox, Dw

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/11477612; info:eu-repo/semantics/altIdentifier/wos/WOS:000170001400011; volume:102(2); firstpage:173; lastpage:182; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/117477; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035425831; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000170001400011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-0035425831&partnerID=65&md5=4d8bfbaf49f4f0019df1667b8aacf6c7

الاتاحة: http://hdl.handle.net/11573/117477
https://doi.org/10.1002/ajmg.1418
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000170001400011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035425831&partnerID=65&md5=4d8bfbaf49f4f0019df1667b8aacf6c7

المؤلفون: Zabel, B., Winterpacht, A., Koch, M., Schuffenhauer, S., Mundlos, S., König, R.

المصدر: Pädiatrie ; page 225-267 ; ISBN 9783662126615 9783662126608

الاتاحة: http://dx.doi.org/10.1007/978-3-662-12660-8_5
http://link.springer.com/content/pdf/10.1007/978-3-662-12660-8_5

المؤلفون: Strom, T. M., Schuffenhauer, S., Murken, J., Meitinger, T.

المصدر: Taschenbuch der medizinisch-klinischen Diagnostik ; page 185-201 ; ISBN 9783642640407 9783642595912

الاتاحة: http://dx.doi.org/10.1007/978-3-642-59591-2_5
http://link.springer.com/content/pdf/10.1007/978-3-642-59591-2_5.pdf

المؤلفون: Callen, D., Eyre, H., McDonnell, S., Schuffenhauer, S., Bhalla, K.

المصدر: http://www.springerlink.com/content/e2y4w31da7hgt7kx/?p=09bca2e67e45463f9a18ae267699c4c8&pi=4.

مصطلحات موضوعية: Chromatin, Humans, Translocation, Genetic, DNA Probes, Chromosome Banding, Male, Chromosome Inversion, Intellectual Disability

Relation: Chromosoma: biology of the nucleus, 2002; 111(3):170-175; http://hdl.handle.net/2440/7110; Callen, D. [0000-0002-6189-9991]

الاتاحة: http://hdl.handle.net/2440/7110
https://doi.org/10.1007/s00412-002-0203-7

المؤلفون: Bilous RW, Van Esch H, Holdaway I, Shaw NJ, Fryns J-P, Van De Ven W, Thakker RV, Devriendt K, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R

المصدر: Nature, 27-07-2000

Relation: https://eprints.ncl.ac.uk/62944

الاتاحة: https://eprints.ncl.ac.uk/62944