المؤلفون: Lill, CM, Liu, T, Schjeide, BMM, Roehr, JT, Akkad, DA, Damotte, V, Alcina, A, Ortiz, MA, Arroyo, R, de Lapuente, AL, Blaschke, P, Winkelmann, A, Gerdes, LA, Luessi, F, Fernadez, O, Izquierdo, G, Antiguedad, A, Hoffjan, S, Cournu-Rebeix, I, Gromoller, S, Faber, H, Liebsch, M, Meissner, E, Chanvillard, C, Touze, E, Pico, F, Corcia, P, Dorner, T, Steinhagen-Thiessen, E, Baeckman, L, Heekeren, HR, Li, SC, Lindenberger, U, Chan, A, Hartung, HP, Aktas, O, Lohse, P, Kumpfel, T, Kubisch, C, Epplen, JT, Zettl, UK, Fontaine, B, Vandenbroeck, K, Matesanz, F, Urcelay, E, Bertram, L, Zipp, F

المصدر: Journal of medical genetics. 49(9):558-562

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125330484

المؤلفون: Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa Maria L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ

المصدر: Genetics in Medicine, April 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/289418; https://eprints.ncl.ac.uk/fulltext.aspx?url=289418/9B4EE7B0-C5FD-4D23-880D-98DFE57E0E62.pdf&pub_id=289418

الاتاحة: https://eprints.ncl.ac.uk/289418

المؤلفون: Al-Jawahiri, R., Foroutan, A., Kerkhof, J., Mcconkey, H., Levy, M., Haghshenas, S., Rooney, K., Turner, J., Shears, D., Holder, M., Lefroy, H., Castle, B., Reis, L. M., Semina, E. V., Lachlan, K., Chandler, K., Wright, T., Clayton-Smith, J., Hug, F. P., Pitteloud, N., Bartoloni, L., Hoffjan, S., Park, S. M., Thankamony, A., Lees, M., Wakeling, E., Naik, S., Hanker, B., Girisha, K. M., Agolini, E., Giuseppe, Z., Alban, Ziegler, Tessarech, Marine, Keren, Z. B., Afenjar, A., Zweier, C., Reis, A., Smol, Thomas, Tsurusaki, Y., Nobuhiko, O., Sekiguchi, F., Tsuchida, N., Matsumoto, N., Kou, I. K., Yonezawa, Y., Ikegawa, S., Callewaert, B., Freeth, M., Kleinendorst, L., Donaldson, A., Alders, M., de Paepe, A., Sadikovic, B., Mcneill, A.

المساهمون: Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: Exome, Genome sequencing, Hypogonadism, Methylation, Neurodevelopmental disorder, SOX11, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35341651; hal-04630966; https://hal.univ-lille.fr/hal-04630966; https://hal.univ-lille.fr/hal-04630966/document; https://hal.univ-lille.fr/hal-04630966/file/PIIS1098360022006657.pdf; PUBMED: 35341651

الاتاحة: https://hal.univ-lille.fr/hal-04630966
https://hal.univ-lille.fr/hal-04630966/document
https://hal.univ-lille.fr/hal-04630966/file/PIIS1098360022006657.pdf
https://doi.org/10.1016/j.gim.2022.02.013

المؤلفون: Al-Jawahiri, R, Foroutan, A, Kerkhof, J, McConkey, H, Levy, M, Haghshenas, S, Rooney, K, Turner, J, Shears, D, Holder, M, Lefroy, H, Castle, B, Reis, LM, Semina, EV, Lachlan, K, Chandler, K, Wright, T, Clayton-Smith, J, Hug, FP, Pitteloud, N, Bartoloni, L, Hoffjan, S, Park, S-M, Thankamony, A, Lees, M, Wakeling, E, Naik, S, Hanker, B, Girisha, KM, Agolini, E, Giuseppe, Z, Alban, Z, Tessarech, M, Keren, B, Afenjar, A, Zweier, C, Reis, A, Smol, T, Tsurusaki, Y, Nobuhiko, O, Sekiguchi, F, Tsuchida, N, Matsumoto, N, Kou, I, Yonezawa, Y, Ikegawa, S, Callewaert, B, Freeth, M, Kleinendorst, L, Donaldson, A, Alders, M, De Paepe, A, Sadikovic, B, McNeill, A, Nickerson, D, Bamshad, M, Leal, S, Ambrose, JC, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, CR, Brittain, H, Caulfield, MJ, Chan, GC, Elgar, G, Fowler, T, Giess, A, Hamblin, A, Henderson, S, Hubbard, TJP, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Leigh, SEA, Leong, IUS, Lopez, JF, FionaMaleady-Crowe, McEntagart, M, Minneci, F, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, O’Donovan, P, Odhams, CA, Patch, C, Pereira, MB, Perez-Gil, D, Pullinger, J, TahrimaRahim, Rendon, A, TimRogers, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smith, SC, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, AL, Thomas, ERA, Thompson, SR, Tucci, A, Welland, MJ, Williams, E, Witkowska, K, Wood, SM

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf; Al-Jawahiri, R orcid.org/0000-0002-5689-3368 , Foroutan, A, Kerkhof, J et al. (111 more authors) (2022) SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24 (6). pp. 1261-1273. ISSN 1098-3600

الاتاحة: https://eprints.whiterose.ac.uk/190170/
https://eprints.whiterose.ac.uk/190170/1/Al-Jawahiri%20et%20al.%202022.pdf

المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C

Relation: pii: 6367979; Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., Stobe, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S. ,. Zweier, C. (2021). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. HUMAN MOLECULAR GENETICS, 31 (3), pp.440-454. https://doi.org/10.1093/hmg/ddab265.; http://hdl.handle.net/11343/301516

الاتاحة: http://hdl.handle.net/11343/301516

المؤلفون: Thiels, C., Lücke, T., Rothoeft, T., Lukas, C., Nguyen, H.P., von Kleist-Retzow, J.C., Prokisch, H., Grimmel, M., Haack, T., Hoffjan, S.

المصدر: Neuropediatrics, DOI:10.1055/s-0043-1776013 (2023)

مصطلحات موضوعية: Acox1, Exome Sequencing, Mitchell Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/37846133; info:eu-repo/semantics/altIdentifier/wos/001085183400001; info:eu-repo/semantics/altIdentifier/isbn/0174-304X; info:eu-repo/semantics/altIden

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68645
https://doi.org/10.1055/s-0043-1776013

المؤلفون: Di Donato, N, Thom, A, Seifert, M, Greve, J, Kreimer, I, Kropp, MS, Niehaus, I, König, M, Taft, M, Heide, M, Krause, K, Schrock, E, Cuvertino, S, Zeef, L, Meinhardt, A, Santos-Simarro, F, Costales, M, Cadiñanos, J, Cabanillas, R, Wollnik, B, Hoffjan, S, Tezcan, K, Fry, A, Pilz, D, Mancini, G, Verloes, A, Rump, A, Manstein, D, Banka, S

المصدر: Di Donato , N , Thom , A , Nma Consortium , Seifert , M , Greve , J , Kreimer , I , Kropp , MS , Niehaus , I , König , M , Taft , M , Heide , M , Krause , K , Schrock , E , Cuvertino , S , Zeef , L , Meinhardt , A , Santos-Simarro , F , Costales , M , Cadiñanos , J , Cabanillas , R , Wollnik , B , Hoffjan , S , Tezcan , K , Fry , A , Pilz , D ....

Relation: https://research.manchester.ac.uk/en/publications/a01e1f03-6d90-4d07-8437-f13c77671e76

الاتاحة: https://research.manchester.ac.uk/en/publications/a01e1f03-6d90-4d07-8437-f13c77671e76
https://doi.org/10.1038/s41431-023-01346-4
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001050507000030&DestLinkType=FullRecord&DestApp=WOS

المؤلفون: Ramond, F., Dalgliesh, C., Grimmel, M., Wechsberg, O., Vetro, A., Guerrini, R., FitzPatrick, D., Poole, R. L., Lebrun, M., Bayat, A., Grasshoff, U., Bertrand, M., Witt, D., Turnpenny, P. D., Faundes, V., Santa María, L., Mendoza Fuentes, C., Mabe, P., Hussain, S. A., Mullegama, S. V., Torti, E., Oehl-Jaschkowitz, B., Salmon, L. B., Orenstein, N., Shahar, N. R., Hagari, O., Bazak, L., Hoffjan, S., Prada, C. E., Haack, T., Elliott, D. J.

مصطلحات موضوعية: Epilepsy, Infantile spasms, Intellectual disability, Molecular genetics, TRA2B, authors declare no conflicts of interest

Relation: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600(22)01070-X; Genet Med. 2022 Dec 20;25(4):100003. doi:10.1016/j.gim.2022.100003.; Genetics in medicine; https://hdl.handle.net/11287/622798

الاتاحة: https://hdl.handle.net/11287/622798
https://doi.org/10.1016/j.gim.2022.100003

المؤلفون: Gu, BJ, Field, J, Dutertre, S, Ou, A, Kilpatrick, TJ, Lechner-Scott, J, Scott, R, Lea, R, Taylor, BV, Stankovich, J, Butzkueven, H, Gresle, M, Laws, SM, Petrou, S, Hoffjan, S, Akkad, DA, Graham, CA, Hawkins, S, Glaser, A, Bedri, SK, Hillert, J, Matute, C, Antiguedad, A, Wiley, JS

المصدر: Human molecular genetics. 24(19):5644-5654

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:132243992

المؤلفون: Reinthaler, E.M., Graf, E., Zrzavy, T., Wieland, T., Hotzy, C., Kopecky, C., Pferschy, S., Schmied, C., Leutmezer, F., Keilani, M., Lill, C.M., Hoffjan, S., Epplen, J.T., Zettl, U.K., Hecker, M., Deutschländer, A., Meuth, S.G., Ahram, M., Mustafa, B., El-Khateeb, M., Vilariño-Güell, C., Sadovnick, A.D., Zimprich, F., Tomkinson, B., Strom, T.M., Kristoferitsch, W., Lassmann, H., Zimprich, A.

المصدر: Neurol. Genet. 4:e285 (2018)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30533531; info:eu-repo/semantics/altIdentifier/isbn/2376-7839; info:eu-repo/semantics/altIdentifier/pissn/2376-7839; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54930; urn:isbn:2376-7839; urn:issn:2376-7839

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54930
https://doi.org/10.1212/NXG.0000000000000285

المؤلفون: Reuter, M.S., Tawamie, H., Buchert, R., Gebril, O.H., Froukh, T., Thiel, C., Uebe, S., Ekici, A.B., Krumbiegel, M., Zweier, C., Hoyer, J., Eberlein, K., Bauer, J., Scheller, U., Strom, T.M., Hoffjan, S., Abdelraouf, E.R., Meguid, N.A., Abboud, A., Al Khateeb, M.A., Fakher, M., Hamdan, S., Ismael, A., Muhammad, S., Abdallah, E., Sticht, H., Wieczorek, D., Reis, A., Abou Jamra, R.

المصدر: JAMA psychiatry 74, 293-299 (2017)

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/28097321; info:eu-repo/semantics/altIdentifier/wos/WOS:000396047300014; info:eu-repo/semantics/altIdentifier/isbn/2168-622X; info:eu-repo/sem; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50763; urn:isbn:2168-622X; urn:issn:2168-622X; urn:issn:2168-6238

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50763
https://doi.org/10.1001/jamapsychiatry.2016.3798

المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/301516

المؤلفون: Thiels, Ch., Rothoeft, T., Hoffjan, S., Nguyen, H., Grasshoff, U., Rostasy, K., Lücke, T.

المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics ; Neuropediatrics ; ISSN 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0041-1739690
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0041-1739690

المؤلفون: Schrewe, L., Lill, C. M., Liu, T., Salmen, A., Gerdes, L. A., Guillot-Noel, L., Akkad, D. A., Blaschke, P., Graetz, C., Hoffjan, S., Kroner, A., Demir, S., Böhme, A., Rieckmann, P., El Ali, A., Hagemann, N., Hermann, D. M., Cournu-Rebeix, I., Zipp, F., Kümpfel, T., Buttmann, M., Zettl, U. K., Fontaine, B., Bertram, L., Gold, R., Chan, A.

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/13625; urn:nbn:de:bvb:20-opus-136252; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-136252; https://doi.org/10.1186/s12974-015-0429-y; https://opus.bibliothek.uni-wuerzburg.de/files/13625/Schrewe_Fs12974-015-0429-y.pdf

الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/13625
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-136252
https://doi.org/10.1186/s12974-015-0429-y
https://opus.bibliothek.uni-wuerzburg.de/files/13625/Schrewe_Fs12974-015-0429-y.pdf

المؤلفون: Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., Stöbe, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S., Pacio-Miguez, M., Popp, B., Vasileiou, G., Hebebrand, M., Reis, A., Schuhmann, S., Krumbiegel, M., Brown, N. J., Sparber, P., Melikyan, L., Bessonova, L., Cherevatova, T., Sharkov, A., Shcherbakova, N., Dabir, T., Kini, U., Schwaibold, E. M. C., Haack, T. B., Bertoli, M., Hoffjan, S., Falb, R., Shinawi, M., Sticht, H., Zweier, C.

Relation: Hum Mol Genet. 2021 Sep 9:ddab265. doi:10.1093/hmg/ddab265.; https://rde.dspace-express.com/handle/11287/622162; Human molecular genetics

الاتاحة: https://doi.org/10.1093/hmg/ddab265
https://rde.dspace-express.com/handle/11287/622162

المؤلفون: Lill, C., Schilling, M., Ansaloni, S., Schröder, J., Jaedicke, M., Luessi, F., Schjeide, B., Mashychev, A., Graetz, C., Akkad, D., Gerdes, L., Kroner, A., Blaschke, P., Hoffjan, S., Winkelmann, A., Dörner, T., Rieckmann, P., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Hartung, H., Aktas, O., Lohse, P., Buttmann, M., Kümpfel, T., Kubisch, C., Zettl, U., Epplen, J., Zipp, F., Bertram, L.

المصدر: Neurogenetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0024-E835-4; http://hdl.handle.net/11858/00-001M-0000-0024-E837-F

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0024-E835-4
http://hdl.handle.net/11858/00-001M-0000-0024-E837-F

المؤلفون: Lill, C., Schjeide, B., Graetz, C., Liu, T., Damotte, V., Akkad, D., Blaschke, P., Gerdes, L., Kroner, A., Luessi, F., Cournu-Rebeix, I., Hoffjan, S., Winkelmann, A., Touze, E., Pico, F., Corcia, P., Otaegui, D., Antigüedad, A., Alcina, A., Comabella, M., Montalban, X., Olascoaga, J., Matesanz, F., Dörner, T., Li, S., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Rieckmann, P., Hartung, H., Aktas, O., Lohse, P., Buttmann, M., Kümpfel, T., Kubisch, C., Zettl, U., Epplen, J., Fontaine, B., Zipp, F., Vandenbroeck, K., Bertram, L.

المصدر: Journal of Medical Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0024-ED11-E; http://hdl.handle.net/21.11116/0000-000E-4077-4

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0024-ED11-E
http://hdl.handle.net/21.11116/0000-000E-4077-4

المؤلفون: Lill, C., Schjejde, B., Graetz, C., Ban, M., Alcina, A., Ortiz, M., Pérez, J., Damotte, V., Booth, D., Lopez de Lapuente, A., Broer, L., Schilling, M., Akkad, D., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Blaschke, P., Buttmann, M., Chan, A., Compston, A., Cournu-Rebeix, I., Dörner, T., Epplen, J., Fernández, Ó., Gerdes, L., Guillot-Noël, L., Hartung, H., Hoffjan, S., Izquierdo, G., Kemppinen, A., Kroner, A., Kubisch, C., Kümpfel, T., Li, S., Lindenberger, U., Lohse, P., Lubetzki, C., Luessi, F., Malhotra, S., Mescheriakova, J., Montalban, X., Papeix, C., Paredes, L., Rieckmann, P., Steinhagen-Thiessen, E., Winkelmann, A., Zettl, U., Hintzen, R., Vandenbroeck, K., Stewart, G., Fontaine, B., Comabella, M., Urcelay, E., Matesanz, F., Sawcer, S., Bertram, L., Zipp, F.

المساهمون: International Multiple Sclerosis Genetics Consortium

المصدر: Brain

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0024-EAC7-C; http://hdl.handle.net/11858/00-001M-0000-0024-EAC9-8

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0024-EAC7-C
http://hdl.handle.net/11858/00-001M-0000-0024-EAC9-8

المؤلفون: Lill, C., Schjejde, B., Akkad, D., Blaschke, P., Winkelmann, A., Gerdes, L., Hoffjan, S., Luessi, F., Dörner, T., Li, S., Steinhagen-Thiessen, E., Lindenberger, U., Chan, A., Hartung, H., Aktas, O., Lohse, P., Kümpfel, T., Kubisch, C., Epplen, J., Zettl, U., Bertram, L., Zipp, F.

المصدر: Neurogenetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0024-EE40-9; http://hdl.handle.net/21.11116/0000-0000-25F6-1

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0024-EE40-9
http://hdl.handle.net/21.11116/0000-0000-25F6-1

المؤلفون: Delnooz, C C S, Lefeber, D J, Langemeijer, S M C, Hoffjan, S, Dekomien, G, Zwarts, M J, Van Engelen, B G M, Wevers, R A, Schelhaas, H J, van de Warrenburg, B P C

مصطلحات موضوعية: Short reports

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/81/9/968; http://dx.doi.org/10.1136/jnnp.2009.177089

الاتاحة: http://jnnp.bmj.com/cgi/content/short/81/9/968
https://doi.org/10.1136/jnnp.2009.177089