نتائج البحث

1

دورية أكاديمية

The effect of mature plant resistance in sugar beet ( Beta vulgaris spp. vulgaris) on survival, fecundity and behaviour of green peach aphids ( Myzus persicae)

المؤلفون: Schop, S., Kloth, K. J., Raaijmakers, E., van der Vlugt, R. A. A.

المصدر: Bulletin of Entomological Research ; volume 112, issue 5, page 707-714 ; ISSN 0007-4853 1475-2670

الإتاحة: https://doi.org/10.1017/s0007485322000128Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0007485322000128Test

View record in BASE

2

دورية أكاديمية

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

المؤلفون: Kloth, K., Lozic, B., Tagoe, J., Hoffer, M.J.V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P.Y.B., Denecke, J., Bijlsma, E.K., Lessel, D.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf; application/msword

العلاقة: http://edoc.mdc-berlin.de/20486/9/20486oa.pdfTest; http://edoc.mdc-berlin.de/20486/15/20486suppl.docxTest; ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants. Kloth, K. and Lozic, B. and Tagoe, J. and Hoffer, M.J.V. and Van der Ven, A. and Thiele, H. and Altmüller, J. and Kubisch, C. and Au, P.Y.B. and Denecke, J. and Bijlsma, E.K. and Lessel, D. Neurogenetics 22 (4): 263-269. October 2021

الإتاحة: https://doi.org/10.1007/s10048-021-00655-4Test
http://edoc.mdc-berlin.de/20486Test/
https://edoc.mdc-berlin.de/20486Test/
http://edoc.mdc-berlin.de/20486/9/20486oa.pdfTest
http://edoc.mdc-berlin.de/20486/15/20486suppl.docxTest

View record in BASE

3

دورية أكاديمية

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.

المؤلفون: van der Ven, A.T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S.B., Prokisch, H., Kubisch, C., Denecke, J., Santer, R., Hempel, M.

المصدر: Clin. Genet., DOI:10.1111/cge.14061 (2021)

مصطلحات موضوعية: Child Development Disorders, Early Diagnosis, Medical Genetics, Mitochondria, Whole Exome Sequencing

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34490615; info:eu-repo/semantics/altIdentifier/wos/WOS:000697151400001; info:eu-repo/semantics/altIdentifier/isbn/0009-9163; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62949Test; urn:isbn:0009-9163; urn:issn:0009-9163; urn:issn:1399-0004

الإتاحة: https://doi.org/10.1111/cge.14061Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62949Test

View record in BASE

4

دورية أكاديمية

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

المؤلفون: Cousin, M.A., Creighton, B.A., Breau, K.A., Spillmann, R.C., Torti, E., Dontu, S., Tripathi, S., Ajit, D., Edwards, R.J., Afriyie, S., Bay, J.C., Harper, K.M., Beltran, A.A., Munoz, L.J., Falcon Rodriguez, L., Stankewich, M.C., Person, R.E., Si, Y., Normand, E.A., Blevins, A., May, A.S., Bier, L., Aggarwal, V., Mancini, G.M.S., van Slegtenhorst, M.A., Cremer, K., Becker, J., Engels, H., Aretz, S., MacKenzie, J.J., Brilstra, E., van Gassen, K.L.I., van Jaarsveld, R.H., Oegema, R., Parsons, G.M., Mark, P., Helbig, I., McKeown, S.E., Stratton, R., Cogné, B., Isidor, B., Cacheiro, P., Smedley, D., Firth, H.V., Bierhals, T., Kloth, K., Weiss, D., Fairley, C., Shieh, J.T., Kritzer, A., Jayakar, P., Kurtz-Nelson, E., Bernier, R.A., Wang, T., Eichler, E.E., van de Laar, I.M.B.H., McConkie-Rosell, A., McDonald, M.T., Kemppainen, J., Lanpher, B.C., Schultz-Rogers, L.E., Gunderson, L.B., Pichurin, P.N., Yoon, G., Zech, M., Jech, R., Winkelmann, J., Beltran, A.S., Zimmermann, M.T., Temple, B., Moy, S.S., Klee, E.W., Tan, Q.K., Lorenzo, D.N.

المصدر: Nat. Genet. 53, 1006-1021 (2021)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34211179; info:eu-repo/semantics/altIdentifier/wos/WOS:000668827300003; info:eu-repo/semantics/altIdentifier/isbn/1061-4036; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62430Test; urn:isbn:1061-4036; urn:issn:1061-4036; urn:issn:1546-1718

الإتاحة: https://doi.org/10.1038/s41588-021-00886-zTest
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62430Test

View record in BASE

5

دورية أكاديمية

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111215/1/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest; Chelban, V; Alsagob, M; Kloth, K; Chirita-Emandi, A; Vandrovcova, J; Maroofian, R; Davagnanam, I; Bakhtiari, S; AlSayed, MD; Rahbeeni, Z; et al. Chelban, V; Alsagob, M; Kloth, K; Chirita-Emandi, A; Vandrovcova, J; Maroofian, R; Davagnanam, I; Bakhtiari, S; AlSayed, MD; Rahbeeni, Z; AlZaidan, H; Malintan, NT; Johannsen, J; Efthymiou, S; Ghayoor Karimiani, E; Mankad, K; Al-Shahrani, SA; Beiraghi Toosi, M; AlShammari, M; Groppa, S; Haridy, NA; AlQuait, L; Qari, A; Huma, R; Salih, MA; Almass, R; Almutairi, FB; Hamad, MH; Alorainy, IA; Ramzan, K; Imtiaz, F; Puiu, M; Kruer, MC; Bierhals, T; Wood, NW; Colak, D; Houlden, H; Kaya, N (2020) Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination. Eur J Neurol, 27 (2). pp. 334-342. ISSN 1468-1331 https://doi.org/10.1111/ene.14082Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1111/ene.14082Test
https://openaccess.sgul.ac.uk/id/eprint/111215Test/
https://openaccess.sgul.ac.uk/id/eprint/111215/6/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111215/1/Chelban_et_al-2019-European_Journal_of_Neurology.pdfTest

View record in BASE

6

دورية أكاديمية

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

المصدر: European Journal of Neurology (2019) (In press).

مصطلحات موضوعية: hypomyelination, leukodystrophy, NKX6‐2, spastic ataxia 8, SPAX8

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10085115/1/Wood_Genetic%20and%20phenotypic%20characterization%20of%20NKX6-2-related%20spastic%20ataxia%20and%20hypomyelination_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10085115Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10085115/1/Wood_Genetic%20and%20phenotypic%20characterization%20of%20NKX6-2-related%20spastic%20ataxia%20and%20hypomyelination_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10085115Test/

View record in BASE

7

دورية أكاديمية

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

المؤلفون: Blok, LS, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, MA, Sahai, I, Stumpel, CTRM, Stegmann, APA, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, WT, Cohen, ASA, Agbahovbe, R, Innes, AM, Au, PYB, Rankin, J, Anderson, IJ, Skinner, SA, Louie, RJ, Warren, HE, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, JH, Price, S, Schnur, RE, Douglas, G, Wentzensen, IM, Zweier, C, Reis, A, Bialer, MG, Moore, C, Koopmans, M, Brilstra, EH, Monroe, GR, van Gassen, KLI, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, JA, Wortmann, SB, Jakielski, KJ, Strand, EA, Kloth, K, Bierhals, T, The DDD Study, Roberts, JD, Petrovich, RM, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faivre, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, HG, Wade, PA, Fisher, SE, Campeau, PM

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/148415/7/correction%20s41467-019-10161-9.pdfTest; Blok, LS, Rousseau, J, Twist, J et al. (77 more authors) (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10. 2079. ISSN 2041-1723

الإتاحة: https://eprints.whiterose.ac.uk/148415Test/
https://eprints.whiterose.ac.uk/148415/7/correction%20s41467-019-10161-9.pdfTest

View record in BASE

8

دورية أكاديمية

Exome sequencing in children undiagnosed developmental delay and neurological illness.

المؤلفون: Mahler, E.A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T.B., Strom, T.M., Kortüm, F., Meitinger, T., Muntau, A.C., Santer, R., Kubisch, C., Lessel, D., Denecke, J., Hempel, M.

المصدر: Dtsch. Arztebl. Int. 116, 197-204 (2019)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31056085; info:eu-repo/semantics/altIdentifier/wos/WOS:000466985200002; info:eu-repo/semantics/altIdentifier/isbn/1866-0452; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55987Test; urn:isbn:1866-0452; urn:issn:1866-0452

الإتاحة: https://doi.org/10.3238/arztebl.2019.0197Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55987Test

View record in BASE

النص الكامل