Buchumschlag

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Gespeichert in:
Bibliographische Detailangaben
Weitere Verfasser: Saisawat, Pawaree (BerichterstatterIn) , Holland-Cunz, Stefan (BerichterstatterIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2014
In: Kidney international
Year: 2014, Jahrgang: 85, Heft: 6, Pages: 1310-1317
ISSN:1523-1755
DOI:10.1038/ki.2013.417
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1038/ki.2013.417
Volltext
Verfasserangaben:Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw-Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S. Matassa, Nataša Stajić, Radovan Bogdanovic, Ivo de Blaauw, Carlo L. M. Marcelis, Charlotte H. W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko M. Reutter and Friedhelm Hildebrandt

MARC

LEADER 00000caa a2200000 c 4500
001 1516745183
003 DE-627
005 20220812091436.0
007 cr uuu---uuuuu
008 151021s2014 xx |||||o 00| ||eng c
024 7 |a 10.1038/ki.2013.417  |2 doi 
035 |a (DE-627)1516745183 
035 |a (DE-576)446745189 
035 |a (DE-599)BSZ446745189 
035 |a (OCoLC)1340716580 
040 |a DE-627  |b ger  |c DE-627  |e rakwb 
041 |a eng 
084 |a 33  |2 sdnb 
245 0 0 |a Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association  |c Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw-Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S. Matassa, Nataša Stajić, Radovan Bogdanovic, Ivo de Blaauw, Carlo L. M. Marcelis, Charlotte H. W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko M. Reutter and Friedhelm Hildebrandt 
264 1 |c 2014 
300 |a 8 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 21.10.2015 
700 1 |a Saisawat, Pawaree  |0 (DE-588)107785742X  |0 (DE-627)837636523  |0 (DE-576)446745170  |4 oth 
700 1 |a Holland-Cunz, Stefan  |0 (DE-588)1032370440  |0 (DE-627)73838397X  |0 (DE-576)171623428  |4 oth 
773 0 8 |i In  |t Kidney international  |d New York, NY : Elsevier, 1972  |g 85(2014), 6, Seite 1310-1317  |h Online-Ressource  |w (DE-627)32046637X  |w (DE-600)2007940-0  |w (DE-576)091143004  |x 1523-1755  |7 nnas  |a Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association 
773 1 8 |g volume:85  |g year:2014  |g number:6  |g pages:1310-1317  |g extent:8  |a Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association 
856 4 0 |u http://dx.doi.org/10.1038/ki.2013.417  |x Verlag  |x Resolving-System  |3 Volltext 
951 |a AR 
992 |a 20151021 
993 |a Article 
994 |a 2014 
998 |g 1032370440  |a Holland-Cunz, Stefan  |m 1032370440:Holland-Cunz, Stefan  |d 50000  |e 50000PH1032370440  |k 0/50000/  |p 22 
999 |a KXP-PPN1516745183  |e 286551952X 
BIB |a Y 
SER |a journal 
JSO |a {"title":[{"title":"Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association","title_sort":"Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association"}],"person":[{"role":"oth","display":"Saisawat, Pawaree","given":"Pawaree","family":"Saisawat"},{"given":"Stefan","family":"Holland-Cunz","role":"oth","display":"Holland-Cunz, Stefan"}],"note":["Gesehen am 21.10.2015"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"recId":"1516745183","language":["eng"],"origin":[{"dateIssuedDisp":"2014","dateIssuedKey":"2014"}],"id":{"eki":["1516745183"],"doi":["10.1038/ki.2013.417"]},"name":{"displayForm":["Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw-Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S. Matassa, Nataša Stajić, Radovan Bogdanovic, Ivo de Blaauw, Carlo L. M. Marcelis, Charlotte H. W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko M. Reutter and Friedhelm Hildebrandt"]},"physDesc":[{"extent":"8 S."}],"relHost":[{"id":{"issn":["1523-1755"],"eki":["32046637X"],"zdb":["2007940-0"]},"origin":[{"publisherPlace":"New York, NY ; Oxford [u.a.] ; [Erscheinungsort nicht ermittelbar] ; Basingstoke","dateIssuedKey":"1972","publisher":"Elsevier ; Blackwell ; Wiley-Blackwell ; Nature Publishing Group","dateIssuedDisp":"1972-"}],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title":"Kidney international","subtitle":"official journal of the International Society of Nephrology","title_sort":"Kidney international"}],"part":{"pages":"1310-1317","issue":"6","year":"2014","extent":"8","text":"85(2014), 6, Seite 1310-1317","volume":"85"},"pubHistory":["1.1972 -"],"corporate":[{"role":"isb","display":"International Society of Nephrology","roleDisplay":"Herausgebendes Organ"}],"language":["eng"],"recId":"32046637X","disp":"Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationKidney international","note":["Gesehen am 20.08.20"],"type":{"bibl":"periodical","media":"Online-Ressource"}}]} 
SRT |a WHOLEEXOME2014 

Ähnliche Einträge