المؤلفون: Rubina, K.A., Semina, E.V., Kalinina, N.I., Sysoeva, V.Yu., Balatskiy, A.V., Tkachuk, V.A.

المساهمون: Russian Foundation for Basic Research

المصدر: European Journal of Cell Biology ; volume 100, issue 7-8, page 151183 ; ISSN 0171-9335

مصطلحات موضوعية: Cell Biology, General Medicine, Histology, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.ejcb.2021.151183Test
https://api.elsevier.com/content/article/PII:S0171933521000340?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0171933521000340?httpAccept=text/plainTest

المؤلفون: Klimovich, P.S., Semina, E.V., Karagyaur, M.N., Rysenkova, K.D., Sysoeva, V.Yu., Mironov, N.A., Sagaradze, G.D., Az'muko, A.A., Popov, V.S., Rubina, K.A., Tkachuk, V.A.

المساهمون: Russian Science Foundation, Russian Foundation of Basic Research, Moscow State University, Program of Development of Lomonosov Moscow State University

المصدر: Biomedicine & Pharmacotherapy ; volume 125, page 110008 ; ISSN 0753-3322

مصطلحات موضوعية: Pharmacology, General Medicine

الإتاحة: https://doi.org/10.1016/j.biopha.2020.110008Test
https://api.elsevier.com/content/article/PII:S0753332220301992?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0753332220301992?httpAccept=text/plainTest

المؤلفون: Oppermann, H., Marcos-Grañeda, E., Weiss, L.A., Gurnett, C.A., Jelsig, A.M., Vineke, S.H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., Hashim, M., Pagnamenta, A.T., Race, S., Srivastava, S., Frazier, Z., Maiwald, R., Pergande, M., Milani, D., Rinelli, M., Levy, J., Krey, I., Fontana, P., Lonardo, F., Riley, S., Kretzer, J., Rankin, J., Reis, L.M., Semina, E.V., Reuter, M.S., Scherer, S.W., Iascone, M., Weis, D., Fagerberg, C.R., Brasch-Andersen, C., Hansen, L.K., Kuechler, A., Noble, N., Gardham, A., Tenney, J., Rathore, G., Beck-Woedl, S., Haack, T.B., Pavlidou, D.C., Atallah, I., Vodopiutz, J., Janecke, A.R., Hsieh, T.C., Lesmann, H., Klinkhammer, H., Krawitz, P.M., Lemke, J.R., Jamra, R.A., Nieto, M., Tümer, Z., Platzer, K.

المصدر: European journal of human genetics, vol. 31, no. 11, pp. 1251-1260

مصطلحات موضوعية: Adult, Animals, Humans, Mice, Heterozygote, Homeodomain Proteins/genetics, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Neurodevelopmental Disorders/genetics, Neurodevelopmental Disorders/pathology, Phenotype, Repressor Proteins/genetics, Seizures, Transcription Factors/genetics, Transcription Factors/metabolism

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37644171; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest; urn:issn:1018-4813

الإتاحة: https://doi.org/10.1038/s41431-023-01445-2Test
https://serval.unil.ch/notice/serval:BIB_483D54F3B66FTest

المؤلفون: Al-Jawahiri, R., Foroutan, A., Kerkhof, J., McConkey, H., Levy, M., Haghshenas, S., Rooney, K., Turner, J., Shears, D., Holder, M., Lefroy, H., Castle, B., Reis, L.M., Semina, E.V., Lachlan, K., Chandler, K., Wright, T., Clayton-Smith, J., Hug, F.P., Pitteloud, N., Bartoloni, L., Hoffjan, S., Park, S.M., Thankamony, A., Lees, M., Wakeling, E., Naik, S., Hanker, B., Girisha, K.M., Agolini, E., Giuseppe, Z., Alban, Z., Tessarech, M., Keren, B., Afenjar, A., Zweier, C., Reis, A., Smol, T., Tsurusaki, Y., Nobuhiko, O., Sekiguchi, F., Tsuchida, N., Matsumoto, N., Kou, I., Yonezawa, Y., Ikegawa, S., Callewaert, B., Freeth, M., Kleinendorst, L., Donaldson, A., Alders, M., De Paepe, A., Sadikovic, B., McNeill, A.

المساهمون: University of Washington Centre for Mendelian Genomics (UW-CMG), Genomics England Research Consortium, Nickerson, D., Bamshad, M., Leal, S., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Elgar, G., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, TJP, Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, SEA, Leong, IUS, Lopez, J.F., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O'Donovan, P., Odhams, C.A., Patch, C., Pereira, M.B., Perez-Gil, D., Pullinger, J., Rahim, T., Rendon, A., Rogers, T, Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, ERA, Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M.

المصدر: Genetics in medicine, vol. 24, no. 6, pp. 1261-1273

مصطلحات موضوعية: DNA Methylation/genetics, Humans, Hypogonadism/genetics, Klinefelter Syndrome/genetics, Neurodevelopmental Disorders/genetics, Phenotype, SOXC Transcription Factors/genetics, Exome Sequencing, Exome, Genome sequencing, Hypogonadism, Methylation, Neurodevelopmental disorder, SOX11

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35341651; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; https://serval.unil.ch/notice/serval:BIB_FD0B4538B921Test; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1016/j.gim.2022.02.013Test
https://serval.unil.ch/notice/serval:BIB_FD0B4538B921Test

المؤلفون: Shi, Xiaohai, Bosenko, D.V., Zinkevich, N.S., Foley, S., Hyde, D.R., Semina, E.V., Vihtelic, Thomas S.

المساهمون: National Institutes of Health

المصدر: Mechanisms of Development ; volume 122, issue 4, page 513-527 ; ISSN 0925-4773

مصطلحات موضوعية: Developmental Biology, Embryology

الإتاحة: https://doi.org/10.1016/j.mod.2004.11.012Test
https://api.elsevier.com/content/article/PII:S0925477304002771?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0925477304002771?httpAccept=text/plainTest

المؤلفون: Vasilyeva, T.A., Voskresenskaya, A.A., Käsmann‐Kellner, B., Khlebnikova, O.V., Pozdeyeva, N.A., Bayazutdinova, G.M., Kutsev, S.I., Ginter, E.K., Semina, E.V., Marakhonov, A.V., Zinchenko, R.A.

المساهمون: Russian Foundation for Basic Research, Russell Sage Foundation

المصدر: Clinical Genetics ; volume 92, issue 6, page 639-644 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13019Test

المؤلفون: Deml, B., Reis, L.M., Maheshwari, M., Griffis, C., Bick, D., Semina, E.V.

المساهمون: National Institutes of Health, Children's Hospital of Wisconsin

المصدر: Clinical Genetics ; volume 86, issue 5, page 475-481 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12379Test

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: Reis, L.M., Tyler, R.C., Kloss, B.A.V., Schilter, K.F., Levin, A.V., Lowry, R.B., Zwijnenburg, P.J.G., Stroh, E., Broeckel, U., Murray, J.C., Semina, E.V.

المصدر: Reis , L M , Tyler , R C , Kloss , B A V , Schilter , K F , Levin , A V , Lowry , R B , Zwijnenburg , P J G , Stroh , E , Broeckel , U , Murray , J C & Semina , E V 2012 , ' PITX2 and FOXC1 spectrum of mutations in ocular syndromes ' , European Journal of Human Genetics , vol. 20 , no. 12 , pp. 1224-1233 . https://doi.org/10.1038/ejhg.2012.80Test

العلاقة: https://research.vumc.nl/en/publications/e15e66dc-a996-4a1c-ab3d-fd623d42cd2bTest

الإتاحة: https://doi.org/10.1038/ejhg.2012.80Test
https://research.vumc.nl/en/publications/e15e66dc-a996-4a1c-ab3d-fd623d42cd2bTest

المؤلفون: Katz, L.A., Schultz, R.E., Semina, E.V., Torfs, C.P., Krahn, K.N., Murray, J.C.

المصدر: American Journal of Medical Genetics Part A ; volume 130A, issue 3, page 277-283 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.30329Test