المؤلفون: Zollino, M, Zweier, C, Van Balkom, ID, Sweetser, DA, Alaimo, J, Bijlsma, EK, Cody, J, Elsea, SH, Giurgea, I, Macchiaiolo, M, Smigiel, R, Thibert, RL, Benoist, I, Clayton-Smith, J, De Winter, CF, Deckers, S, Gandhi, A, Huisman, S, Kempink, D, Kruisinga, F, Lamacchia, V, Marangi, G, Menke, L, Mulder, P, Nordgren, A, Renieri, A, Routledge, S, Saunders, CJ, Stembalska, A, Van Balkom, H, Whalen, S, Hennekam, RC

المصدر: Clinical genetics. 95(4):462-478

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140591061Test

المؤلفون: Levy M. A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M. P., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Fletcher R. S., Cherik F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Østergaard E., Pallares N. R., Piccione M., Pizzi S., Plomp A. S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Kerrnohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128406827

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
https://hdl.handle.net/10447/620282Test

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

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022102763568Test

المؤلفون: Kirchenwitz, M., Stahnke, S., Prettin, S., Borowiak, M., Menke, L., Sieben, C., Birchmeier, C., Rottner, K., Stradal, T.E.B., Steffen, A.

مصطلحات موضوعية: Function and Dysfunction of the Nervous System, Topic 3: Integrative Biomedicine

وصف الملف: application/pdf; other

العلاقة: http://edoc.mdc-berlin.de/21662/1/21662oa.pdfTest; http://edoc.mdc-berlin.de/21662/2/21662suppl.zipTest; SMER28 attenuates PI3K/mTOR signaling by direct inhibition of PI3K p110 delta. Kirchenwitz, M. and Stahnke, S. and Prettin, S. and Borowiak, M. and Menke, L. and Sieben, C. and Birchmeier, C. and Rottner, K. and Stradal, T.E.B. and Steffen, A. Cells 11 (10): 1648. 16 May 2022

الإتاحة: https://doi.org/10.3390/cells11101648Test
http://edoc.mdc-berlin.de/21662Test/
https://edoc.mdc-berlin.de/21662Test/
http://edoc.mdc-berlin.de/21662/1/21662oa.pdfTest
http://edoc.mdc-berlin.de/21662/2/21662suppl.zipTest

المؤلفون: Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Piening, S.

المصدر: Mulder , P A , van Balkom , I D C , Landlust , A M , Priolo , M , Menke , L A , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , Di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , Gonzalez , N G , Huber , I , Iascone , M , Kaiser , ....

مصطلحات موضوعية: adaptive behaviour, cognition, Malan syndrome, Marshall-Smith syndrome, NFIXvariants, sensory processing, AUTISTIC DISORDER, SOTOS-LIKE, CHILDREN, PATTERNS, ADULTS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test

الإتاحة: https://doi.org/10.1111/jir.12787Test
https://hdl.handle.net/11370/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
https://pure.rug.nl/ws/files/169311508/jir.12787.pdfTest

المؤلفون: Levy, M, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Haghshenas, S, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Mannens, M, Roscioli, T, Siu, V, Amor, D, Baynam, G, Bend, E, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J, Genèvieve, D, Kerrnohan, KKD, McNeill, A, Menke, L, Faivre, L, Merla, G, Prontera, P, Rockman, C, Schwartz, C, Skinner, S, DuPont, B, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M, Sadikovic, B

المصدر: Levy , M , Relator , R , McConkey , H , Pranckeviciene , E , Kerkhof , J , Haghshenas , S , Azmanov , D , Balci , T , Banka , S , Gecz , J , Henneman , P , Mannens , M , Roscioli , T , Siu , V , Amor , D , Baynam , G , Bend , E , Boycott , K , Brunetti-Pierri , N , Campeau , PM , Christodoulou , J , Dyment , D , Esber , N , Fahrner , J , Genèvieve , D ....

العلاقة: https://research.manchester.ac.uk/en/publications/c8467718-5fd5-4dc0-bdd6-25c2fcfcdaf6Test

الإتاحة: https://doi.org/10.1038/s41431-023-01346-4Test
https://research.manchester.ac.uk/en/publications/c8467718-5fd5-4dc0-bdd6-25c2fcfcdaf6Test
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001050507002267&DestLinkType=FullRecord&DestApp=WOSTest

المؤلفون: Crescente, M, Menke, L, Chan, MV, Armstrong, PC, Warner, TD

وصف الملف: 988 - 999

العلاقة: BRITISH JOURNAL OF PHARMACOLOGY; https://qmro.qmul.ac.uk/xmlui/handle/123456789/55988Test

الإتاحة: https://doi.org/10.1111/bph.14196Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/55988Test

المؤلفون: Levy M. A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B. R., Elting M. W., Faivre L., Fee T., Ferilli M., Fletcher R. S., Cherick F., Foroutan A., Friez M. J., Gervasini C., Haghshenas S., Hilton B. A., Jenkins Z., Kaur S., Lewis S., Louie R. J., Maitz S., Milani D., Morgan A. T., Oegema R., Ostergaard E., Pallares N. R., Piccione M., Plomp A. S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G. W. E., Santos-Simarro F., Schijns J., Squeo G. M., John M. S., Thauvin-Robinet C., Traficante G., van der Sluijs P. J., Vergano S. A., Vos N., Walden K. K., Azmanov D., Balci T. B., Banka S., Gecz J., Henneman P., Lee J. A., Mannens M. M. A. M., Roscioli T., Siu V., Amor D. J., Baynam G., Bend E. G., Boycott K., Brunetti-Pierri N., Campeau P. M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J. A., Fleming M. D., Genevieve D., Heron D., Husson T., Kernohan K. D., McNeill A., Menke L. A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S. A., Stevenson R. E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M. L., Sadikovic B.

المساهمون: Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

مصطلحات موضوعية: DNA methylation, clinical diagnostics, episignatures, neurodevelopmental syndromes

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/10447/579330Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967

الإتاحة: https://doi.org/10.1002/humu.24446Test
https://hdl.handle.net/10447/579330Test

المؤلفون: Schleicher, M, Schleußner, E, Menke, L

المصدر: 30. Kongress der Deutschen Gesellschaft für Perinatale Medizin – „Wandel als Herausforderung“ ; Zeitschrift für Geburtshilfe und Neonatologie ; ISSN 1439-1651

الإتاحة: https://doi.org/10.1055/s-0041-1739899Test

المؤلفون: Menke, L, Schleicher, M, Hoyer-Bachmann, Y, Schleußner, E

المصدر: 30. Kongress der Deutschen Gesellschaft für Perinatale Medizin – „Wandel als Herausforderung“ ; Zeitschrift für Geburtshilfe und Neonatologie ; ISSN 1439-1651

الإتاحة: https://doi.org/10.1055/s-0041-1739901Test