المؤلفون: Slavotinek, A., Searby, C., Al-Gazali, L., Hennekam, R., Schrander-Stumpel, C., Orcana-Losa, M., Pardo-Reoyo, S., Cantani, A., Kumar, D., Capellini, Q., Neri, G., Zackai, E., Biesecker, L.

Relation: oai:zenodo.org:1232759

الاتاحة: https://doi.org/10.1007/s00439-002-0733-3

المؤلفون: Ionasescu, V V, Searby, C, Greenberg, S A

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/12/1048; http://dx.doi.org/10.1136/jmg.33.12.1048

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/12/1048
https://doi.org/10.1136/jmg.33.12.1048

المؤلفون: McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A

Relation: https://ora.ox.ac.uk/objects/uuid:a3b27acb-94e4-4473-9f91-9a3c9f308cf2; https://doi.org/10.1016/j.ajhg.2010.09.008

الاتاحة: https://doi.org/10.1016/j.ajhg.2010.09.008
https://ora.ox.ac.uk/objects/uuid:a3b27acb-94e4-4473-9f91-9a3c9f308cf2

المؤلفون: Walder, R. Y., Yang, B., Stokes, J. B., Kirby, P. A., Cao, X., Shi, P., Searby, C. C., Husted, R. F., Sheffield, V. C.

المصدر: Human Molecular Genetics ; volume 18, issue 22, page 4367-4375 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddp392
http://academic.oup.com/hmg/article-pdf/18/22/4367/1589803/ddp392.pdf

المؤلفون: Nishimura, D, Searby, C, Alward, W, Walton, D, Jamie Craig, David Mackey, Kawase, K, Kanis, A, Patil, S, Stone, E, Sheffield, V

مصطلحات موضوعية: Genome structure and regulation, No keyword provided

Relation: 102.100.100/595726; https://figshare.com/articles/journal_contribution/A_spectrum_of_FOXC1_mutations_suggests_gene_dosage_as_a_mechanism_for_developmental_defects_of_the_anterior_chamber_of_the_eye/22841954

الاتاحة: https://figshare.com/articles/journal_contribution/A_spectrum_of_FOXC1_mutations_suggests_gene_dosage_as_a_mechanism_for_developmental_defects_of_the_anterior_chamber_of_the_eye/22841954

المؤلفون: Nishimura, D Y, Searby, C C, Haider, N B, Heon, E, Iannaccone, A, Bonneau, D, Biesecker, L G, Jacobson, S G, Stone, E M, et, al

المصدر: Faculty Research 2000 - 2009

مصطلحات موضوعية: Animal, Bardet-Biedl-Syndrome, Chromosome-Mapping, Chromosomes-Human-Pair-16, Cloning-Molecular, Conserved-Sequence, Evolution-Molecular, Female, Genetic-Screening, Human, Male, Mice, Molecular-Sequence-Data, Mutation, Pedigree, Rats, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

Relation: https://mouseion.jax.org/stfb2000_2009/211; http://hmg.oupjournals.org/cgi/content/full/10/8/865

الاتاحة: https://mouseion.jax.org/stfb2000_2009/211
http://hmg.oupjournals.org/cgi/content/full/10/8/865

المؤلفون: Haider, N.B., Searby, C., Galperin, E., Mintz, L., Horowitz, M., Stone, E.M., Sheffield, V.C.

المساهمون: National Institutes of Health

المصدر: Gene ; volume 240, issue 1, page 227-232 ; ISSN 0378-1119

الاتاحة: http://dx.doi.org/10.1016/s0378-1119(99)00395-9
https://api.elsevier.com/content/article/PII:S0378111999003959?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0378111999003959?httpAccept=text/plain

المؤلفون: Mouton, P. Le Fras. N., Flemming, Alexander F., Searby, C. Alexander

المصدر: Journal of Morphology ; volume 235, issue 3, page 177-182 ; ISSN 0362-2525 1097-4687

الاتاحة: http://dx.doi.org/10.1002/(sici)1097-4687(199803)235:3%3C177::aid-jmor1%3E3.0.co%3B2-4
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1097-4687(199803)235:3%3C177::AID-JMOR1%3E3.0.CO%3B2-4
https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1097-4687(199803)235:3%3C177::AID-JMOR1%3E3.0.CO%3B2-4

المؤلفون: Ionasescu, V, Searby, C, Rubenstein, P, Sandra, A, Cancilla, P, Robillard, J

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/46/6/551; http://dx.doi.org/10.1136/jnnp.46.6.551

الاتاحة: http://jnnp.bmj.com/cgi/content/short/46/6/551
https://doi.org/10.1136/jnnp.46.6.551

المؤلفون: Ionasescu, V. V., Trofatter, J., Haines, J. L., Ionasescu, R., Searby, C.

المصدر: Neurology ; volume 42, issue 4, page 903-903 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.42.4.903
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.42.4.903

المؤلفون: Slavotinek, A. M., Searby, C., Al-Gazali, L., Hennekam, R. C. M., Schrander-Stumpel, C., Orcana-Losa, M., Pardo-Reoyo, S., Cantani, A., Kumar, D., Capellini, Q., Neri, G., Zackai, E., Biesecker, L.

المصدر: Human Genetics; Jun2002, Vol. 110 Issue 6, p561-567, 7p

مصطلحات موضوعية: GENETIC disorders, VATER syndrome, LAURENCE-Moon-Biedl syndrome, INTELLECTUAL disabilities, GENITAL abnormalities, ENDOCRINE diseases, HUMAN abnormalities

المؤلفون: Ionasescu, V., Searby, C., Ionasescu, R., Burns, T.

المصدر: Acta Neurologica Scandinavica; May1988, Vol. 77 Issue 5, p382-386, 5p

المؤلفون: Ionasescu, Victor V., Kimura, Jun, Searby, Charles C., Smith, Wilbur L., Ross, Mark A., Ionasescu, Rebecca, Ionasescu, V V, Kimura, J, Searby, C C, Smith, W L Jr, Ross, M A, Ionasescu, R

المصدر: Muscle & Nerve; 1996, Vol. 19 Issue 3, p319-323, 5p

المؤلفون: Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Müller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U., FERLINI, Alessandra

المساهمون: Kunkel, Lm, Hejtmancik, Jf, Caskey, Ct, Speer, A, Monaco, Ap, Middlesworth, W, Colletti, Ca, Bertelson, C, Müller, U, Bresnan, M, Shapiro, F, Tantravahi, U, Speer, J, Latt, Sa, Bartlett, R, Pericak Vance, Ma, Roses, Ad, Thompson, Mw, Ray, Pn, Worton, Rg, Fischbeck, Kh, Gallano, P, Coulon, M, Duros, C, Boue, J, Junien, C, Chelly, J, Hamard, G, Jeanpierre, M, Lambert, M, Kaplan, Jc, Emery, A, Dorkins, H, Mcglade, S, Davies, Ke, Boehm, C, Arveiler, B, Lemaire, C, Morgan, Gj, Denton, Mj, Amos, J, Bobrow, M, Benham, F, Boswinkel, E, Cole, C, Dubowitz, V, Hart, K, Hodgson, S, Johnson, L, Walker, A, Roncuzzi, L, Ferlini, Alessandra, Nobile, C, Romeo, G, Wilcox, De, Affara, Na, Ferguson Smith, Ma, Lindolf, M, Kaariainen, H, de la Chapelle, A, Ionasescu, V, Searby, C, Ionasescu, R, Bakker, E, van Ommen, Gj, Pearson, Pl, Greenberg, Cr, Hamerton, Jl, Wrogemann, K, Doherty, Ra, Polakowska, R, Hyser, C, Quirk, S, Thomas, N, Harper, Jf, Darras, Bt, Francke, U.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:A1986D077300064; volume:322; issue:6074; firstpage:73; lastpage:77; numberofpages:5; journal:NATURE; http://hdl.handle.net/11392/1679325; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0022444372

الاتاحة: http://hdl.handle.net/11392/1679325
https://doi.org/10.1038/322073a0

المؤلفون: Ellsworth, R E, Ionasescu, V, Searby, C, Sheffield, V C, Braden, V V, Kucaba, T A, McPherson, J D, Marra, M A, Green, E D

المصدر: Genome Research; June 1999, Vol. 9 Issue: 6 p568-574, 7p

المؤلفون: Ionasescu, V. V., Trofatter, J., Haines, J. L., Ionasescu, R., Searby, C.

المصدر: Neurology (Ovid); April 1992, Vol. 42 Issue: 4 p903-908, 6p

المؤلفون: Ionasescu, V., Burns, T., Ionasescu, R., Searby, C., Ginns, E.

المصدر: Cytogenetic and Genome Research ; volume 47, issue 3, page 173-174 ; ISSN 1424-8581 1424-859X

الاتاحة: http://dx.doi.org/10.1159/000132539
https://www.karger.com/Article/Pdf/132539

المؤلفون: Ionasescu, V., Burns, T., Searby, C., Ionasescu, R.

المصدر: Cytogenetic and Genome Research ; volume 45, issue 3-4, page 240-241 ; ISSN 1424-8581 1424-859X

الاتاحة: http://dx.doi.org/10.1159/000132466
https://www.karger.com/Article/Pdf/132466

المؤلفون: lonasescu, V., Burns, T., Searby, C., lonasescu, R., Whitehead, A.S.

المصدر: Cytogenetic and Genome Research ; volume 47, issue 3, page 175-176 ; ISSN 1424-8581 1424-859X

الاتاحة: http://dx.doi.org/10.1159/000132541
https://www.karger.com/Article/Pdf/132541

المؤلفون: Searby C, Ionasescu R, Ionasescu

المصدر: The New England journal of medicine. 309(1)

مصطلحات موضوعية: Genetic Markers, business.industry, Genetic Carrier Screening, General Medicine, Fibroblasts, Molecular biology, Muscular Dystrophies, Clone Cells, medicine.anatomical_structure, Medicine, Humans, Collagen, business, Fibroblast

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f725dd6a42a3803dc3987c9bbad973b
https://pubmed.ncbi.nlm.nih.gov/6574317