المؤلفون: Kučinskas, V., Preikšaitienė, E., Ambrozaitytė, L., Cimbalistienė, L., Utkus, A.

المصدر: Neurologijos seminarai; Vol. 26 No. 1 (91) (2022): Neurologijos seminarai; 15-26 ; Neurologijos seminarai; T 26 Nr. 1 (91) (2022): Neurologijos seminarai; 15-26 ; 2424-5917 ; 1392-3064

مصطلحات موضوعية: genome rearrangements, congenital developmental disorders, ntellectual disability, Alkuraya-Kucinskas syndrome, genomo persitvarkymai, CNS raidos sutrikimai, intelektinė negalia, Alkuraya-Kučinskas sindromas

وصف الملف: application/pdf

العلاقة: https://www.journals.vu.lt/neurologijos_seminarai/article/view/29289/28394Test; https://www.journals.vu.lt/neurologijos_seminarai/article/view/29289Test

الإتاحة: https://doi.org/10.29014/NS.2022.26.3Test
https://www.journals.vu.lt/neurologijos_seminarai/article/view/29289Test

المؤلفون: den Hoed, J., de Boer, E., Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistiene, L., Coon, H., Delot, E.C., Demurger, F., Denomme-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kucinskas, V., Kuechler, A., Lavillaureix, A., Liu, P.F., Fisher, Simon E.

المصدر: den Hoed , J , de Boer , E , Voisin , N , Dingemans , A J M , Guex , N , Wiel , L , Nellaker , C , Amudhavalli , S M , Banka , S , Bena , F S , Ben-Zeev , B , Bonagura , V R , Bruel , A L , Brunet , T , Brunner , H G , Chew , H B , Chrast , J , Cimbalistiene , L , Coon , H , Delot , E C , Demurger , F , Denomme-Pichon , A S ....

مصطلحات موضوعية: MISSENSE MUTATIONS, BINDING PROTEIN, EXPRESSION, INTERLEUKIN-2, CHROMATIN, REGION, GENES

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://cris.maastrichtuniversity.nl/en/publications/e49bdbbc-76c5-4fd5-ba44-8898c9f6a550Test

المؤلفون: Gueneau, L., Fish, R.J., Shamseldin, H.E., Voisin, N., Tran Mau-Them, F., Preiksaitiene, E., Monroe, G.R., Lai, A., Putoux, A., Allias, F., Ambusaidi, Q., Ambrozaityte, L., Cimbalistienė, L., Delafontaine, J., Guex, N., Hashem, M., Kurdi, W., Jamuar, S.S., Ying, L.J., Bonnard, C., Pippucci, T., Pradervand, S., Roechert, B., van Hasselt, P.M., Wiederkehr, M., Wright, C.F., Xenarios, I., van Haaften, G., Shaw-Smith, C., Schindewolf, E.M., Neerman-Arbez, M., Sanlaville, D., Lesca, G., Guibaud, L., Reversade, B., Chelly, J., Kučinskas, V., Alkuraya, F.S., Reymond, A.

المساهمون: DDD Study

المصدر: American journal of human genetics, vol. 102, no. 1, pp. 116-132

مصطلحات موضوعية: Adolescent, Animals, Arthrogryposis/genetics, Brain/diagnostic imaging, Brain/embryology, Brain/pathology, Child, Female, Gene Knockdown Techniques, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Mutation/genetics, Pedigree, Proteins/genetics, Zebrafish, Zebrafish Proteins/genetics, arthrogryposis, brain malformations, cerebellar hypoplasia, clubfoot, hydrocephaly, whole-exome sequencing

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29290337; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D335250BB8979; https://serval.unil.ch/notice/serval:BIB_D335250BB897Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_D335250BB897.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D335250BB8979Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.12.002Test
https://serval.unil.ch/notice/serval:BIB_D335250BB897Test
https://serval.unil.ch/resource/serval:BIB_D335250BB897.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D335250BB8979Test

المؤلفون: Vaisvilas M, Dirse V, Aleksiuniene B, Tamuliene I, Cimbalistiene L, Utkus A, Rascon J

المصدر: Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 87-91 (2018)

مصطلحات موضوعية: congenital heart defect, facial dysmorphia, leukemia, leukemogensis, malrotation of the intestine, tbx1 gene, 22q11.1q11.22 duplication, Genetics, QH426-470

العلاقة: https://doi.org/10.2478/bjmg-2018-0002Test; https://doaj.org/toc/1311-0160Test; https://doaj.org/article/1103a5cb41d14262bef68e95ca9b8d6bTest

الإتاحة: https://doi.org/10.2478/bjmg-2018-0002Test
https://doaj.org/article/1103a5cb41d14262bef68e95ca9b8d6bTest

المؤلفون: Strupaite, R., Ambrozaitytė, L., Cimbalistienė, L., Ašoklis, R., Utkus, A.

المصدر: Acta Ophthalmologica ; volume 95, issue S259 ; ISSN 1755-375X 1755-3768

الإتاحة: https://doi.org/10.1111/j.1755-3768.2017.02686Test

المؤلفون: Hoed, J. den, Boer, E. de, Voisin, N., Dingemans, A.J.M., Guex, N., Wiel, L.J.M. van de, Nellaker, C., Amudhavalli, S.M., Banka, S., Bena, F.S., Ben-Zeev, B., Bonagura, V.R., Bruel, A.L., Brunet, T., Brunner, H.G., Chew, H.B., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E.C., Démurger, F., Denommé-Pichon, A.S., Depienne, C., Donnai, D., Dyment, D.A., Elpeleg, O., Faivre, L., Gilissen, C.F., Granger, L., Haber, B., Hachiya, Y., Abedi, Y.H., Hanebeck, J., Hehir-Kwa, J.Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K.L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A.A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P, Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M.A., Miyatake, S., Mizuguchi, T., Moey, L.H., Mohammed, S, Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T.B., Parker, M., Petersen, A.K., Pfundt, R.P., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J.A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R.C., Stegmann, A.P.A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-Dos-Santos, J.H., Schrier Vergano, S.A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D.F., Kleefstra, T., Reymond, A., Fisher, S.E., Vissers, L.E.L.M.

المصدر: American Journal of Human Genetics, 108, 2, pp. 346-356

مصطلحات موضوعية: Neuroinformatics, Radboudumc 19: Nanomedicine RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest; https://hdl.handle.net/2066/231687Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.007Test
https://hdl.handle.net/2066/231687Test
https://repository.ubn.ru.nl//bitstream/handle/2066/231687/231687.pdfTest

المؤلفون: Giannattasio, S., Jurgelevičius, V., Lattanzio, P., Cimbalistienė, L., Marra, E., Kučinskas, V.

المصدر: Human Heredity, 1997 May 01. 47(3), 155-160.

الوصول الحر: https://www.jstor.org/stable/45102866Test

المؤلفون: Strupaite, R., Cimbalistienė, L., Ambrozaitytė, L., Utkus, A., Asoklis, R.

المصدر: Acta Ophthalmologica ; volume 94, issue S256 ; ISSN 1755-375X 1755-3768

الإتاحة: https://doi.org/10.1111/j.1755-3768.2016.0616Test

المؤلفون: Kučinskas, V., Jurgelevičius, V., Cimbalistienė, L., Holmgren, G.

المصدر: Human Heredity, 1994 Mar 01. 44(2), 110-113.

الوصول الحر: https://www.jstor.org/stable/45102790Test

المؤلفون: Haghighi, A., Kavehmanesh, Z., Salehzadeh, F., Santos‐Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al‐Sinani, S., Dastmalchian, S., de Silva, D.C., Bakhti, H., Garg, A., Hilbert, P.

المصدر: Clinical Genetics ; volume 89, issue 4, page 434-441 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12623Test