المؤلفون: Erdinc D, Rodriguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G, Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ

المصدر: EMBO Molecular Medicine, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/290840; https://eprints.ncl.ac.uk/fulltext.aspx?url=290840/B90E5251-827D-481E-807D-E0E7B34A3AC0.pdf&pub_id=290840

الاتاحة: https://eprints.ncl.ac.uk/290840

المؤلفون: Himmelreich, N., Bertoldi, M., Alfadhel, M., Alghamdi, M.A., Anikster, Y., Bao, X., Bashiri, F.A., Zeev, B.B., Bisello, G., Ceylan, A.C., Chien, Y.-H., Choy, Y.S., Elsea, S.H., Flint, L., García-Cazorla, À., Gijavanekar, C., Gümüş, E.Y., Hamad, M.H., Hişmi, B., Honzik, T., Hübschmann, O.K., Hwu, W.-L., Ibáñez-Micó, S., Jeltsch, K., Juliá-Palacios, N., Kasapkara, Ç.S., Kurian, M.A., Kusmierska, K., Liu, N., Ngu, L.H., Odom, J.D., Ong, W.P., Opladen, T., Oppeboen, M., Pearl, P.L., Pérez, B., Pons, R., Rygiel, A.M., Shien, T.E., Spaull, R., Sykut-Cegielska, J., Tabarki, B., Tangeraas, T., Thöny, B., Wassenberg, T., Wen, Y., Yakob, Y., Yin, J.G.C., Zeman, J., Blau, N.

المصدر: Himmelreich , N , Bertoldi , M , Alfadhel , M , Alghamdi , M A , Anikster , Y , Bao , X , Bashiri , F A , Zeev , B B , Bisello , G , Ceylan , A C , Chien , Y-H , Choy , Y S , Elsea , S H , Flint , L , García-Cazorla , À , Gijavanekar , C , Gümüş , E Y , Hamad , M H , Hişmi , B , Honzik , T , Hübschmann , O K , Hwu , W-L , Ibáñez-Micó , ....

الاتاحة: https://hdl.handle.net/1983/7ce90ca5-1a77-498e-bae8-5039e48b4633
https://research-information.bris.ac.uk/en/publications/7ce90ca5-1a77-498e-bae8-5039e48b4633
https://doi.org/10.1016/j.ymgme.2023.107624
http://www.scopus.com/inward/record.url?eid=2-s2.0-85162242618&partnerID=MN8TOARS

المؤلفون: Leslie, J. S., Hjeij, R., Vivante, A., Bearce, E. A., Dyer, L., Wang, J., Rawlins, L., Kennedy, J., Ubeyratna, N., Fasham, J., Irons, Z. H., Craig, S. B., Koenig, J., George, S., Pode-Shakked, B., Bolkier, Y., Barel, O., Mane, S., Frederiksen, K. K., Wenger, O., Scott, E., Cross, H. E., Lorentzen, E., Norris, D. P., Anikster, Y., Omran, H., Grimes, D. T., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Daw1, Heterotaxy, Left-right asymmetry, Motile cilia, Primary ciliary dyskinesia

Relation: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(22)00870-X; Genet Med. 2022 Sep 7:S1098-3600(22)00870-X. doi:10.1016/j.gim.2022.07.019.; https://rde.dspace-express.com/handle/11287/622663; Genetics in medicine

الاتاحة: https://doi.org/10.1016/j.gim.2022.07.019
https://rde.dspace-express.com/handle/11287/622663

المؤلفون: Iuso, A., Zhang, F., Rusha, E., Campbell, B., Dorn, T., Zanuttigh, E., Haas, D., Anikster, Y., Lederer, G., Pertek, A., Nteli, P., Laugwitz, K.L., Moretti, A.

المصدر: Stem Cell Res. 61:102773 (2022)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/35397396; info:eu-repo/semantics/altIdentifier/wos/WOS:000792718500004; info:eu-repo/semantics/altIdentifier/isbn/1873-5061; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64753; urn:isbn:1873-5061; urn:issn:1873-5061; urn:issn:1876-7753

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64753
https://doi.org/10.1016/j.scr.2022.102773

المؤلفون: Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M

المساهمون: Consortium, Genomics England Research

Relation: https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40; https://doi.org/10.1016/j.ajhg.2020.11.015

الاتاحة: https://doi.org/10.1016/j.ajhg.2020.11.015
https://ora.ox.ac.uk/objects/uuid:50c1a2ab-6630-4fa7-ae4d-495b44019a40

المؤلفون: Lin, YC, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, NM, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, RB, Tartaglia, M

المصدر: American Journal of Human Genetics , 108 (1) pp. 115-133. (2021)

مصطلحات موضوعية: SCUBE, BMP, BMP receptors, bone morphogenetic protein, skeletal development, morphogenesis, genomic sequencing, mechanism of disease, intracellular signaling

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdf; https://discovery.ucl.ac.uk/id/eprint/10158748/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158748/1/SCUBE3_loss_of_function.pdf
https://discovery.ucl.ac.uk/id/eprint/10158748/

المؤلفون: Benshoshan, M, Sosnovski, K E, Braun, T, Amir, A, Anikster, Y, Haberman Ziv, Y

المصدر: Journal of Crohn's and Colitis ; volume 15, issue Supplement_1, page S152-S152 ; ISSN 1873-9946 1876-4479

الاتاحة: https://doi.org/10.1093/ecco-jcc/jjab076.170
http://academic.oup.com/ecco-jcc/article-pdf/15/Supplement_1/S152/38313169/jjab076.170.pdf

المؤلفون: Anikster, Y., Eilam, T., Bushnell, W. R., Kosman, E.

المصدر: Mycologia, 2005 Mar 01. 97(2), 474-484.

URL الوصول: https://www.jstor.org/stable/3762265

المؤلفون: Anikster, Y., Eilam, T., Manisterski, J., Leonard, K. J.

المصدر: Mycologia, 2003 Jan 01. 95(1), 87-97.

URL الوصول: https://www.jstor.org/stable/3761965

المؤلفون: Anikster, Y., Eilam, T., Mittelman, L., Szabo, L. J., Bushnell, W. R.

المصدر: Mycologia, 1999 Sep 01. 91(5), 858-870.

URL الوصول: https://www.jstor.org/stable/3761539

المؤلفون: Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C.M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L.A., Perilla-Young, Y., Remke, M., Wieczorek, D., Navaratnarajah, T., Lichtner, P., Klee, D., Shamseldin, H.E., Al Mutairi, F., Mayatepek, E., Strom, T., Meitinger, T., Alkuraya, F.S., Anikster, Y., Saltiel, A.R., Distelmaier, F.

المصدر: Am. J. Hum. Genet. 106, 246-255 (2020)

مصطلحات موضوعية: Epilepsy, Garnl1, Muscular Hypotonia, Neurodevelopmental Disorder, Rala Signaling, Tulip1, West Syndrome

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32004447; info:eu-repo/semantics/altIdentifier/wos/WOS:000512913300009; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58871; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58871
https://doi.org/10.1016/j.ajhg.2020.01.002

المؤلفون: Kolmer, J. A., Ordonez, M. E., German, S., Morgounov, A., Pretorius, Z., Visser, B., Goyeau, Henriette, Anikster, Y., Acevedo, M.

المساهمون: United States Department of Agriculture (USDA), Pontificia Universidad Católica del Ecuador, INIA, International Maize and Wheat Improvement Center Turquie (CIMMYT), International Maize and Wheat Improvement Center (CIMMYT), Consultative Group on International Agricultural Research CGIAR (CGIAR)-Consultative Group on International Agricultural Research CGIAR (CGIAR), University of the Free State, Partenaires INRAE, BIOlogie et GEstion des Risques en agriculture (BIOGER), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Université Paris Saclay (COmUE), Tel Aviv University (TAU), Cornell University New York

المصدر: ISSN: 0031-949X.

مصطلحات موضوعية: Puccinia Triticina, Wheat, region, Rust resistance, population, [SDV]Life Sciences [q-bio], [SDE]Environmental Sciences

Relation: info:eu-repo/semantics/altIdentifier/pmid/30932734; PRODINRA: 481793; PUBMED: 30932734; WOS: 000480463600013

الاتاحة: https://hal.inrae.fr/hal-02627408
https://hal.inrae.fr/hal-02627408v1/document
https://hal.inrae.fr/hal-02627408v1/file/2019%20-%20Kolmer%20JA%20-%20Phytopathology_1.pdf
https://doi.org/10.1094/PHYTO-10-18-0411-R

المؤلفون: Oz-Levi, D, Olender, T, Bar-Joseph, I, Zhu, Y, Marek-Yagel, D, Barozzi, I, Osterwalder, M, Alkelai, A, Ruzzo, EK, Han, Y, Vos, ESM, Reznik-Wolf, H, Hartman, C, Shamir, R, Weiss, B, Shapiro, R, Pode-Shakked, B, Tatarskyy, P, Milgrom, R, Schvimer, M, Barshack, I, Imai, DM, Coleman-Derr, D, Dickel, DE, Nord, AS, Afzal, V, van Bueren, KL, Barnes, RM, Black, BL, Mayhew, CN, Kuhar, MF, Pitstick, A, Tekman, M, Stanescu, HC, Wells, JM, Kleta, R, de laat, W, Goldstein, DB, Pras, E, Visel, A, Lancet, D, Anikster, Y, Pennacchio, LA

المصدر: Nature , 571 pp. 107-111. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10080305/6/Kleta%20red%20IDS.complied.near.final%20%281%29.pdf; https://discovery.ucl.ac.uk/id/eprint/10080305/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10080305/6/Kleta%20red%20IDS.complied.near.final%20%281%29.pdf
https://discovery.ucl.ac.uk/id/eprint/10080305/

المؤلفون: Kolmer, J. A., Herman, A., Ordoñez, M. E., German, S., Morgounov, A., Pretorius, Z., Visser, B., Anikster, Y., Acevedo, M.

المصدر: Heredity ; volume 124, issue 3, page 397-409 ; ISSN 0018-067X 1365-2540

الاتاحة: http://dx.doi.org/10.1038/s41437-019-0288-x
http://www.nature.com/articles/s41437-019-0288-x.pdf
http://www.nature.com/articles/s41437-019-0288-x

المؤلفون: Iuso, A., Wiersma, M., Schüller, H.J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N.A., Okun, J.G., Perles, Z., Salem, Y., Barel, O., Vardi, A., Rubinshtein, M., Tirosh, T., Dubnov-Raz, G., Messias, A.C., Terrile, C., Barshack, I., Volkov, A., Avivi, C., Eyal, E., Mastantuono, E., Kumbar, M., Abudi, S., Braunisch, M., Strom, T.M., Meitinger, T., Hoffmann, G.F., Prokisch, H., Haack, T.B., Brundel, B.J.J.M., Haas, D., Sibon, O.C.M., Anikster, Y.

المصدر: Am. J. Hum. Genet. 102, 1018-1030 (2018)

مصطلحات موضوعية: Coenzyme A, Dilated Cardiomyopathy, Pantethine Treatment, Pentothenate, Phospohopantothenoylcysteine Synthetase, Ppcs

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/29754768; info:eu-repo/semantics/altIdentifier/wos/WOS:000434946200002; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53521; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53521
https://doi.org/10.1016/j.ajhg.2018.03.022

المؤلفون: Barel, O, Malicdan, MC, Ben-Zeev, B, Kandel, J, Pri-Chen, H, Stephen, J, Castro, I, Metz, J, Atawa, O, Moshkovitz, S, Ganelin, E, Barshack, I, Polak-Charcon, S, Nass, D, Marek-Yagel, D, Amariglio, N, Shalva, N, Vilboux, T, Ferreira, C, Pode-Shakked, B, Heimer, G, Hoffmann, C, Yardeni, T, Nissenkorn, A, Avivi, C, Eyal, E, Kol, N, Saar, E, Wallace, D, Gahl, W, Rechavi, G, Schrader, M, Eckmann, D, Anikster, Y

مصطلحات موضوعية: TRAK1, mitochondria transport, rare diseases, early-onset epilepsy, neurodegeneration

Relation: http://hdl.handle.net/10871/33588; Vol. 140 (3), pp. 568–581; http://hdl.handle.net/10871/29383; Brain

الاتاحة: http://hdl.handle.net/10871/29383
https://doi.org/10.1093/brain/awx002

المؤلفون: Vivante, A, Mann, N, Yonath, H, Weiss, A-C, Getwan, M, Kaminski, MM, Bohnenpoll, T, Teyssier, C, Chen, J, Shril, S, van der Ven, AT, Ityel, H, Schmidt, JM, Widmeier, E, Bauer, SB, Sanna-Cherchi, S, Gharavi, AG, Lu, W, Magen, D, Shukrun, R, Lifton, RP, Tasic, V, Stanescu, HC, Cavaillès, V, Kleta, R, Anikster, Y, Dekel, B, Kispert, A, Lienkamp, SS, Hildebrandt, F

المصدر: Journal of the American Society of Nephrology , 28 (8) pp. 2364-2376. (2017)

مصطلحات موضوعية: CAKUT, NRIP1, retinoic acid

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1551010/1/Kleta_NRIP1_Manuscript_Ver%207-1-RK%20%282%29.pdf; https://discovery.ucl.ac.uk/id/eprint/1551010/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1551010/1/Kleta_NRIP1_Manuscript_Ver%207-1-RK%20%282%29.pdf
https://discovery.ucl.ac.uk/id/eprint/1551010/

المؤلفون: Anikster, Y., Haack, T.B., Vilboux, T., Pode-Shakked, B., Thöny, B., Shen, N., Guarani, V., Meissner, T., Mayatepek, E., Trefz, F.K., Marek-Yagel, D., Martinez, A., Huttlin, E.L., Paulo, J.A., Berutti, R., Benoist, J.F., Imbard, A., Dorboz, I., Heimer, G., Landau, Y., Ziv-Strasser, L., Malicdan, M.C.V., Gemperle-Britschgi, C., Cremer, K., Engels, H., Meili, D., Keller, I., Bruggmann, R., Strom, T.M., Meitinger, T., Mullikin, J.C., Schwartz, G., Ben-Zeev, B., Gahl, W.A., Harper, J.W., Blau, N., Hoffmann, G.F., Prokisch, H., Opladen, T., Schiff, M.

المصدر: Am. J. Hum. Genet. 100, 257-266 (2017)

مصطلحات موضوعية: Bh 4, Dnajc12, Dystonia, Hyperphenylalaninemia, Neurotransmitter Deficiency, Newborn Screening, Phenylketonuria, Tetrahydrobiopterin

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/28132689; info:eu-repo/semantics/altIdentifier/wos/WOS:000393352000007; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50447; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50447
https://doi.org/10.1016/j.ajhg.2017.01.002

المؤلفون: Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S.

المصدر: Journal of Neuro-Ophthalmology, March 2022, Volume 42, Issue 1

Relation: https://collections.lib.utah.edu/ark:/87278/s6dmckcw

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6dmckcw

المؤلفون: Falik Zaccai, TC, Savitzki, D, Zivony-Elboum, Y, Vilboux, T, Fitts, EC, Shoval, Y, Kalfon, L, Samra, N, Keren, Z, Gross, B, Chasnyk, N, Straussberg, R, Mullikin, JC, Teer, JK, Geiger, D, Kornitzer, D, Bitterman-Deutsch, O, Samson, AO, Wakamiya, M, Peterson, JW, Kirtley, ML, Pinchuk, IV, Baze, WB, Gahl, WA, Kleta, R, Anikster, Y, Chopra, AK

المصدر: Brain , 140 (2) pp. 370-386. (2016)

مصطلحات موضوعية: Autosomal recessive, complex phospholipid defects, phospholipase A2-activating protein (PLAA), progressive leukoencephalopathy, startle response

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1535097/1/Falik-Zaccai_Phospholipase%20A2-activating%20protein%20is%20associated%20with%20a%20novel%20form%20of%20leukoencephalopathy.pdf; https://discovery.ucl.ac.uk/id/eprint/1535097/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1535097/1/Falik-Zaccai_Phospholipase%20A2-activating%20protein%20is%20associated%20with%20a%20novel%20form%20of%20leukoencephalopathy.pdf
https://discovery.ucl.ac.uk/id/eprint/1535097/