المؤلفون: Yan, Zhijiang, Delannoy, Mathieu, Ling, Chen, Daee, Danielle, Osman, Fekret, Muniandy, Parameswary A., Shen, Xi, Oostra, Anneke B., Du, Hansen, Steltenpool, Jurgen, Lin, Ti, Schuster, Beatrice, Décaillet, Chantal, Stasiak, Andrzej, Stasiak, Alicja Z., Stone, Stacie, Hoatlin, Maureen E., Schindler, Detlev, Woodcock, Christopher L., Joenje, Hans, Sen, Ranjan, de Winter, Johan P., Li, Lei, Seidman, Michael M., Whitby, Matthew C., Myung, Kyungjae, Constantinou, Angelos, Wang, Weidong

المصدر: Molecular Cell ; volume 37, issue 6, page 865-878 ; ISSN 1097-2765

الاتاحة: http://dx.doi.org/10.1016/j.molcel.2010.01.039
https://api.elsevier.com/content/article/PII:S1097276510001668?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1097276510001668?httpAccept=text/plain

المؤلفون: van der Lelij, Petra, Godthelp, Barbara C., van Zon, Wouter, van Gosliga, Djoke, Oostra, Anneke B., Steltenpool, Jûrgen, de Groot, Jan, Scheper, Rik J., Wolthuis, Rob M., Waisfisz, Quinten, Darroudi, Firouz, Joenje, Hans, de Winter, Johan P.

المصدر: van der Lelij , P , Godthelp , B C , van Zon , W , van Gosliga , D , Oostra , A B , Steltenpool , J , de Groot , J , Scheper , R J , Wolthuis , R M , Waisfisz , Q , Darroudi , F , Joenje , H & de Winter , J P 2009 , ' The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2 ' , PLoS ONE , vol. 4 , no. 9 , e0006936 . https://doi.org/10.1371/journal.pone.0006936

الاتاحة: https://research.vumc.nl/en/publications/3ad95623-fb3a-4341-a17c-0c5d4ac1fea5
https://doi.org/10.1371/journal.pone.0006936
http://www.scopus.com/inward/record.url?scp=75549083875&partnerID=8YFLogxK

المؤلفون: Bakker, Sietske T., van de Vrugt, Henri J., Rooimans, Martin A., Oostra, Anneke B., Steltenpool, Jurgen, Delzenne-Goette, Elly, van der Wal, Anja, van der Valk, Martin, Joenje, Hans, te Riele, Hein, de Winter, Johan P.

مصطلحات موضوعية: Article

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/ddp297v1; http://dx.doi.org/10.1093/hmg/ddp297

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/ddp297v1
https://doi.org/10.1093/hmg/ddp297

المؤلفون: Dorsman, Josephine C., Levitus, Marieke, Rockx, Davy, Rooimans, Martin A., Oostra, Anneke B., Haitjema, Anneke, Bakker, Sietske T., Steltenpool, Jûrgen, Schuler, Dezsö, Mohan, Sheila, Schindler, Detlev, Arwert, Fré, Pals, Gerard, Mathew, Christopher G., Waisfisz, Quinten, de Winter, Johan P., Joenje, Hans

المصدر: Analytical Cellular Pathology ; volume 29, issue 3, page 211-218 ; ISSN 2210-7177 2210-7185

الاتاحة: http://dx.doi.org/10.1155/2007/151968
http://downloads.hindawi.com/journals/acp/2007/151968.pdf
https://onlinelibrary.wiley.com/doi/pdf/10.1155/2007/151968

المؤلفون: De Winter, Johan P., Léveillé, France, Van Berkel, Carola G.M., Rooimans, Martin A., Van Der Weel, Laura, Steltenpool, Jurgen, Demuth, Ilja, Morgan, Neil V., Alon, Noa, Bosnoyan-Collins, Lucine, Lightfoot, Jeff, Leegwater, Peter A., Waisfisz, Quinten, Komatsu, Kenshi, Arwert, Fré, Pronk, Jan C., Mathew, Christopher G., Digweed, Martin, Buchwald, Manuel, Joenje, Hans

المصدر: De Winter , J P , Léveillé , F , Van Berkel , C G M , Rooimans , M A , Van Der Weel , L , Steltenpool , J , Demuth , I , Morgan , N V , Alon , N , Bosnoyan-Collins , L , Lightfoot , J , Leegwater , P A , Waisfisz , Q , Komatsu , K , Arwert , F , Pronk , J C , Mathew , C G , Digweed , M , Buchwald , M & Joenje , H 2000 , ' Isolation of a cDNA representing ....

الاتاحة: https://research.vumc.nl/en/publications/1c1bfca9-1c16-45b7-a03e-67824378f838
https://doi.org/10.1016/S0002-9297(07)62959-0
http://www.scopus.com/inward/record.url?scp=0033759693&partnerID=8YFLogxK

المؤلفون: Stoepker, Chantal, Hain, Karolina, Schuster, Beatrice, Hilhorst-Hofstee, Yvonne, Rooimans, Martin A., Steltenpool, Jurgen, Oostra, Anneke B., Eirich, Katharina, Korthof, Elisabeth T., Nieuwint, Aggie W. M., Jaspers, Nicolaas G. J., Bettecken, Thomas, Joenje, Hans, Schindler, Detlev, Rouse, John, de Winter, Johan P.

المصدر: Stoepker , C , Hain , K , Schuster , B , Hilhorst-Hofstee , Y , Rooimans , M A , Steltenpool , J , Oostra , A B , Eirich , K , Korthof , E T , Nieuwint , A W M , Jaspers , N G J , Bettecken , T , Joenje , H , Schindler , D , Rouse , J & de Winter , J P 2011 , ' SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype ' , Nature Genetics , vol. 43 , no. 2 ....

Relation: https://discovery.dundee.ac.uk/en/publications/f22eab22-9229-4c42-84f3-ce70f75b383b

الاتاحة: https://discovery.dundee.ac.uk/en/publications/f22eab22-9229-4c42-84f3-ce70f75b383b
https://doi.org/10.1038/ng.751
http://www.scopus.com/inward/record.url?scp=79251632658&partnerID=8YFLogxK

المؤلفون: van der Lelij, Petra, van Gosliga, Djoke, Oostra, Anneke B., Steltenpool, Jurgen, de Groot, Jan, Waisfisz, Quinten, Scheper, Rik J., Darroudi, Firouz, Godthelp, Barbara C., Joenje, Hans, de Winter, Johan P.

المصدر: van der Lelij , P , van Gosliga , D , Oostra , A B , Steltenpool , J , de Groot , J , Waisfisz , Q , Scheper , R J , Darroudi , F , Godthelp , B C , Joenje , H & de Winter , J P 2010 , ' Ectopic ESCO2 Expression in Roberts Syndrome Fibroblasts Corrects Cohesion Defects and Sensitivity to DNA Damaging Agents ' , American Journal of Medical Genetics Part A , vol. 152A , no. 7 , pp. 1635-1636 .

Relation: https://research.vumc.nl/en/publications/f70ac8e9-de48-4444-9a56-8227e2da55ab

الاتاحة: https://research.vumc.nl/en/publications/f70ac8e9-de48-4444-9a56-8227e2da55ab

المؤلفون: Léveillé, France, Ferrer, Miriam, Medhurst, Annette L., Laghmani, El Houari, Rooimans, Martin A., Bier, Patrick, Steltenpool, Jurgen, Titus, Tom A., Postlethwait, John H., Hoatlin, Maureen E., Joenje, Hans, de Winter, Johan P.

المصدر: DNA Repair ; volume 5, issue 5, page 556-565 ; ISSN 1568-7864

الاتاحة: http://dx.doi.org/10.1016/j.dnarep.2006.01.005
https://api.elsevier.com/content/article/PII:S1568786406000267?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1568786406000267?httpAccept=text/plain

المؤلفون: Levitus, Marieke, Waisfisz, Quinten, Godthelp, Barbara C., de Vries, Yne, Hussain, Shobbir, Wiegant, Wouter W., Elghalbzouri-Maghrani, Elhaam, Steltenpool, Jûrgen, Rooimans, Martin A., Pals, Gerard, Arwert, Fré, Mathew, Christopher G., Zdzienicka, Małgorzata Z., Hiom, Kevin, De Winter, Johan P., Joenje, Hans

المصدر: Levitus , M , Waisfisz , Q , Godthelp , B C , de Vries , Y , Hussain , S , Wiegant , W W , Elghalbzouri-Maghrani , E , Steltenpool , J , Rooimans , M A , Pals , G , Arwert , F , Mathew , C G , Zdzienicka , M Z , Hiom , K , De Winter , J P & Joenje , H 2005 , ' The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J ' , Nature Genetics , vol. 37 , no. 9 , pp. 934-935 ....

مصطلحات موضوعية: Chromosomes, Human, Pair 17, DNA-binding proteins, Fanconi anemia, Genetic complementation test, Humans, Microsatellite repeats, Molecular sequence data, Mutation, RNA helicases, Sequence deletion

Relation: https://discovery.dundee.ac.uk/en/publications/682ce5a2-f8c0-4b8c-8190-ea8c0683add0

الاتاحة: https://discovery.dundee.ac.uk/en/publications/682ce5a2-f8c0-4b8c-8190-ea8c0683add0
https://doi.org/10.1038/ng1625

المؤلفون: Meetei, Amom Ruhikanta, Medhurst, Annette L, Ling, Chen, Xue, Yutong, Singh, Thiyam Ramsing, Bier, Patrick, Steltenpool, Jurgen, Stone, Stacie, Dokal, Inderjeet, Mathew, Christopher G, Hoatlin, Maureen, Joenje, Hans, de Winter, Johan P, Wang, Weidong

المصدر: Nature Genetics ; volume 37, issue 9, page 958-963 ; ISSN 1061-4036 1546-1718

الاتاحة: http://dx.doi.org/10.1038/ng1626
http://www.nature.com/articles/ng1626.pdf
http://www.nature.com/articles/ng1626

المؤلفون: Singh, Thiyam Ramsing, Bakker, Sietske T., Agarwal, Sheba, Jansen, Michael, Grassman, Elke, Godthelp, Barbara C., Ali, Abdullah Mahmood, Du, Chang-hu, Rooimans, Martin A., Fan, Qiang, Wahengbam, Kebola, Steltenpool, Jurgen, Andreassen, Paul R., Williams, David A., Joenje, Hans, de Winter, Johan P., Meetei, Amom Ruhikanta

المصدر: Blood; July 2009, Vol. 114 Issue: 1 p174-180, 7p

المؤلفون: Medhurst, Annette L., Laghmani, El Houari, Steltenpool, Jurgen, Ferrer, Miriam, Fontaine, Chantal, de Groot, Jan, Rooimans, Martin A., Scheper, Rik J., Meetei, Amom Ruhikanta, Wang, Weidong, Joenje, Hans, de Winter, Johan P.

المصدر: Blood; September 2006, Vol. 108 Issue: 6 p2072-2080, 9p