المؤلفون: Stankiewicz, P., Kulkarni, S., Dharmadhikari, A.V., Sampath, S., Bhatt, S.S., Shaikh, T.H., Xia, Z., Pursley, A.N., Cooper, M.L., Shinawi, M., Paciorkowski, A.R., Grange, D.K., Noetzel, M.J., Saunders, S., Simons, P., Summar, M., Lee, B., Scaglia, F., Fellmann, F., Martinet, D., Beckmann, J.S., Asamoah, A., Platky, K., Sparks, S., Martin, A.S., Madan-Khetarpal, S., Hoover, J., Medne, L., Bonnemann, C.G., Moeschler, J.B., Vallee, S.E., Parikh, S., Irwin, P., Dalzell, V.P., Smith, W.E., Banks, V.C., Flannery, D.B., Lovell, C.M., Bellus, G.A., Golden-Grant, K., Gorski, J.L., Kussmann, J.L., McGregor, T.L., Hamid, R., Pfotenhauer, J., Ballif, B.C., Shaw, C.A., Kang, S.H., Bacino, C.A., Patel, A., Rosenfeld, J.A., Cheung, S.W., Shaffer, L.G.

المصدر: Human Mutation, vol. 33, no. 1, pp. 165-179

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 10, DNA Copy Number Variations, Developmental Disabilities/complications, Developmental Disabilities/genetics, Female, Genetic Variation, Homologous Recombination, Humans, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability/complications, Intellectual Disability/genetics, Male, Nerve Growth Factors/genetics, Oligonucleotide Array Sequence Analysis, Penetrance, Segmental Duplications, Genomic/genetics, Sequence Deletion, Vesicular Acetylcholine Transport Proteins/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21948486; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_821E7FE324C61; https://serval.unil.ch/notice/serval:BIB_821E7FE324C6Test; urn:issn:1059-7794; https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_821E7FE324C61Test

الإتاحة: https://doi.org/10.1002/humu.21614Test
https://serval.unil.ch/notice/serval:BIB_821E7FE324C6Test
https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_821E7FE324C61Test

المؤلفون: Frishberg, Y., Deschenes, G., Cochat, P., Magen, D., Groothoff, J., Hulton, S.A., Harambat, J., Van’t Hoff, W., Hoppe, B., Lieske, J.C., McGregor, T.L., Tamimi, N., Haslett, P., Talamudupula, S., Erbe, D.V., Milliner, D.S.

المصدر: European Urology Supplements ; volume 18, issue 1, page e388-e389 ; ISSN 1569-9056

مصطلحات موضوعية: Urology

الإتاحة: https://doi.org/10.1016/s1569-9056Test(19)30291-x
https://api.elsevier.com/content/article/PII:S156990561930291X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S156990561930291X?httpAccept=text/plainTest

المؤلفون: Weh, E., Reis, L.M., Tyler, R.C., Bick, D., Rhead, W.J., Wallace, S., McGregor, T.L., Dills, S.K., Chao, M.‐C., Murray, J.C., Semina, E.V.

المصدر: Clinical Genetics ; volume 86, issue 2, page 142-148 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12241Test

المؤلفون: Weh, E., Reis, L.M., Tyler, R.C., Bick, D., Rhead, W.J., Wallace, S., McGregor, T.L., Dills, S.K., Chao, M.‐C., Murray, J.C., Semina, E.V.

المصدر: Clinical Genetics; Aug2014, Vol. 86 Issue 2, p142-148, 7p

مصطلحات موضوعية: GLYCOSYLTRANSFERASES, GENETIC mutation, DEVELOPMENTAL delay, BRACHYDACTYLY, BODY dysmorphic disorder, ALLELES

المؤلفون: Frishberg, Y. (AUTHOR), Deschenes, G. (AUTHOR), Cochat, P. (AUTHOR), Magen, D. (AUTHOR), Groothoff, J. (AUTHOR), Hulton, S.A. (AUTHOR), Harambat, J. (AUTHOR), Van't Hoff, W. (AUTHOR), Hoppe, B. (AUTHOR), Lieske, J.C. (AUTHOR), McGregor, T.L. (AUTHOR), Tamimi, N. (AUTHOR), Haslett, P. (AUTHOR), Talamudupula, S. (AUTHOR), Erbe, D.V. (AUTHOR), Milliner, D.S. (AUTHOR)

المصدر: European Urology Supplements. Mar2019, Vol. 18 Issue 1, pe388-e389. 2p.

مصطلحات موضوعية: *RNA interference, *PEDIATRIC nephrology