المؤلفون: Tooming, M., Mertsina, P., Kahre, T., Teek, R., Vainumäe, I., Lilles, S., Wojcik, M. H., Ilves, P., Õunap, K.

المصدر: Frontiers in Genetics; 2025, p1-8, 8p

مصطلحات موضوعية: GENETIC variation, SOMATIC mutation, CELL growth, GENETIC disorders, CELL division

المؤلفون: Loberti, L. (Lorenzo), Bruno, L. P. (Lucia Pia), Granata, S. (Stefania), Doddato, G. (Gabriella), Resciniti, S. (Sara), Fava, F. (Francesca), Carullo, M. (Michele), Rahikkala, E. (Elisa), Jouret, G. (Guillaume), Menke, L. A. (Leonie A.), Lederer, D. (Damien), Vrielynck, P. (Pascal), Ryba, L. (Lukáš), Brunetti-Pierri, N. (Nicola), Lasa-Aranzasti, A. (Amaia), Cueto-González, A. M. (Anna Maria), Trujillano, L. (Laura), Valenzuela, I. (Irene), Tizzano, E. F. (Eduardo F.), Spinelli, A. M. (Alessandro Mauro), Bruno, I. (Irene), Currò, A. (Aurora), Stanzial, F. (Franco), Benedicenti, F. (Francesco), Lopergolo, D. (Diego), Santorelli, F. M. (Filippo Maria), Aristidou, C. (Constantia), Tanteles, G. A. (George A.), Maystadt, I. (Isabelle), Tkemaladze, T. (Tinatin), Reimand, T. (Tiia), Lokke, H. (Helen), Õunap, K. (Katrin), Haanpää, M. K. (Maria K.), Holubová, A. (Andrea), Zoubková, V. (Veronika), Schwarz, M. (Martin), Žordania, R. (Riina), Muru, K. (Kai), Roht, L. (Laura), Tihveräinen, A. (Annika), Teek, R. (Rita), Thomson, U. (Ulvi), Atallah, I. (Isis), Superti-Furga, A. (Andrea), Buoni, S. (Sabrina), Canitano, R. (Roberto), Scandurra, V. (Valeria), Rossetti, A. (Annalisa), Grosso, S. (Salvatore), Battini, R. (Roberta), Baldassarri, M. (Margherita), Mencarelli, M. A. (Maria Antonietta), Lo Rizzo, C. (Caterina), Bruttini, M. (Mirella), Mari, F. (Francesca), Ariani, F. (Francesca), Renieri, A. (Alessandra), Pinto, A. M. (Anna Maria)

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2022102763568

المؤلفون: Loberti, L., Bruno, L.P., Granata, S., Doddato, G., Resciniti, S., Fava, F., Carullo, M., Rahikkala, E., Jouret, G., Menke, L.A., Lederer, D., Vrielynck, P., Ryba, L., Brunetti-Pierri, N., Lasa-Aranzasti, A., Cueto-González, A.M., Trujillano, L., Valenzuela, I., Tizzano, E.F., Spinelli, A.M., Bruno, I., Currò, A., Stanzial, F., Benedicenti, F., Lopergolo, D., Santorelli, F.M., Aristidou, C., Tanteles, G.A., Maystadt, I., Tkemaladze, T., Reimand, T., Lokke, H., Õunap, K., Haanpää, M.K., Holubová, A., Zoubková, V., Schwarz, M., Žordania, R., Muru, K., Roht, L., Tihveräinen, A., Teek, R., Thomson, U., Atallah, I., Superti-Furga, A., Buoni, S., Canitano, R., Scandurra, V., Rossetti, A., Grosso, S., Battini, R., Baldassarri, M., Mencarelli, M.A., Rizzo, C.L., Bruttini, M., Mari, F., Ariani, F., Renieri, A., Pinto, A.M.

المصدر: Human molecular genetics, vol. 31, no. 24, pp. 4131-4142

مصطلحات موضوعية: Pregnancy, Female, Humans, Facies, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Comparative Genomic Hybridization, Repressor Proteins/genetics, Phenotype, Dwarfism/genetics, European People

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/35861666; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CD40BBEC41D30; https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3; https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_CD40BBEC41D3
https://doi.org/10.1093/hmg/ddac167
https://serval.unil.ch/resource/serval:BIB_CD40BBEC41D3.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CD40BBEC41D30

المؤلفون: Mauring, L., Puusepp, S., Parik, M., Roomets, E., Teek, R., Reimand, T., Pajusalu, S., Kaljurand, K., Õunap, K.

المساهمون: Eesti Teadusagentuur

المصدر: European Journal of Medical Genetics ; volume 66, issue 9, page 104821 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2023.104821
https://api.elsevier.com/content/article/PII:S1769721223001271?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721223001271?httpAccept=text/plain

المؤلفون: Loberti, L, Bruno, L, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A, Trujillano, L, Valenzuela, I, Tizzano, E, Spinelli, A, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F, Aristidou, C, Tanteles, G, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Isis, A, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M, Rizzo, C, Bruttini, M, Mari, F, Ariani, F, Renieri, A, Pinto, A, Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria

مصطلحات الفهرس: KBG syndrome,exome ,array-cgh, MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10281/467122
info:eu-repo/semantics/altIdentifier/pmid/35861666
info:eu-repo/semantics/altIdentifier/wos/WOS:000841370900001
volume:31
issue:24
firstpage:4131
lastpage:4142
numberofpages:12
journal:HUMAN MOLECULAR GENETICS

المؤلفون: Joost, K., Tammur, P., Teek, R., Žilina, O., Peters, M., Kreile, M., Lace, B., Žordania, R., Talvik, I., Õunap, K.

المصدر: Molecular Syndromology ; volume 1, issue 6, page 311-315 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000331323
https://www.karger.com/Article/Pdf/331323

المؤلفون: Muru, K., Kalev, I., Teek, R., Sõnajalg, M., Kuuse, K., Reimand, T., Õunap, K.

المصدر: Molecular Syndromology ; volume 1, issue 6, page 307-310 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000330109
https://www.karger.com/Article/Pdf/330109

المؤلفون: Teek, R, Kruustük, K, Zordania, R, Joost, K, Kahre, T, Tõnisson, N, Nelis, M, Zilina, O, Tranebjærg, Lisbeth, Reimand, T, Ounap, K

المصدر: Teek , R , Kruustük , K , Zordania , R , Joost , K , Kahre , T , Tõnisson , N , Nelis , M , Zilina , O , Tranebjærg , L , Reimand , T & Ounap , K 2013 , ' Hearing impairment in Estonia : An algorithm to investigate genetic causes in pediatric patients ' , Advances in Medical Sciences , vol. 58 , no. 2 , pp. 419–428 . https://doi.org/10.2478/ams-2013-0001

الاتاحة: https://researchprofiles.ku.dk/da/publications/hearing-impairment-in-estonia(f5731f80-1234-4440-a0a5-bc6040fbb2e7).html
https://doi.org/10.2478/ams-2013-0001

المؤلفون: Muru, K., Kalev, I., Teek, R., Sõnajalg, M., Kuuse, K., Reimand, T., Õunap, K.

مصطلحات موضوعية: Short Report

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::89774f22befb81659d6f5c35d31b2ee3
https://europepmc.org/articles/PMC3214961/

المؤلفون: Teek, R., Kruustük, K., Žordania, R., Joost, K., Kahre, T., Tõnisson, N., Nelis, M., Zilina, O., Tranebjaerg, L., Reimand, T., Õunap, K.

المصدر: Advances in Medical Sciences (De Gruyter Open); 2013, Vol. 58 Issue 2, p419-428, 10p

مصطلحات موضوعية: DEAFNESS in children, ETIOLOGY of diseases, GENETIC mutation, CYTOMEGALOVIRUS diseases, KARYOTYPES, HOMOZYGOSITY