Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) Editorial |
| Sprache: | Englisch |
| Veröffentlicht: |
9 April 2010
|
| In: |
Clinical genetics
Year: 2010, Jahrgang: 77, Heft: 5, Pages: 507-509 |
| ISSN: | 1399-0004 |
| DOI: | 10.1111/j.1399-0004.2009.01349.x |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1111/j.1399-0004.2009.01349.x Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.2009.01349.x |
| Verfasserangaben: | JM Drijvers, DJ Lefeber, SA de Munnik, R Pfundt, N van de Leeuw, C Marcelis, C Thiel, C Koerner, RA Wevers, E Morava |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1836535260 | ||
| 003 | DE-627 | ||
| 005 | 20230710155658.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230216s2010 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/j.1399-0004.2009.01349.x |2 doi | |
| 035 | |a (DE-627)1836535260 | ||
| 035 | |a (DE-599)KXP1836535260 | ||
| 035 | |a (OCoLC)1389821633 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Drijvers, Jefte M. |e VerfasserIn |0 (DE-588)1281157384 |0 (DE-627)1836536496 |4 aut | |
| 245 | 1 | 0 | |a Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations |c JM Drijvers, DJ Lefeber, SA de Munnik, R Pfundt, N van de Leeuw, C Marcelis, C Thiel, C Koerner, RA Wevers, E Morava |
| 264 | 1 | |c 9 April 2010 | |
| 300 | |a 3 | ||
| 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 16.02.2023 | ||
| 700 | 1 | |a Lefeber, Dj |e VerfasserIn |4 aut | |
| 700 | 1 | |a De Munnik, Sa |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pfundt, R |e VerfasserIn |4 aut | |
| 700 | 1 | |a Van De Leeuw, N |e VerfasserIn |4 aut | |
| 700 | 1 | |a Marcelis, C |e VerfasserIn |4 aut | |
| 700 | 1 | |a Thiel, Christian |d 1972- |e VerfasserIn |0 (DE-588)124888127 |0 (DE-627)367435276 |0 (DE-576)293543151 |4 aut | |
| 700 | 1 | |a Koerner, C |e VerfasserIn |4 aut | |
| 700 | 1 | |a Wevers, Ra |e VerfasserIn |4 aut | |
| 700 | 1 | |a Morava, E |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinical genetics |d Oxford : Wiley-Blackwell, 1970 |g 77(2010), 5, Seite 507-509 |h Online-Ressource |w (DE-627)320437949 |w (DE-600)2004581-5 |w (DE-576)091142628 |x 1399-0004 |7 nnas |a Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations |
| 773 | 1 | 8 | |g volume:77 |g year:2010 |g number:5 |g pages:507-509 |g extent:3 |a Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations |
| 856 | 4 | 0 | |u https://doi.org/10.1111/j.1399-0004.2009.01349.x |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.2009.01349.x |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20230216 | ||
| 993 | |a Editorial | ||
| 994 | |a 2010 | ||
| 998 | |g 124888127 |a Thiel, Christian |m 124888127:Thiel, Christian |d 910000 |d 910500 |e 910000PT124888127 |e 910500PT124888127 |k 0/910000/ |k 1/910000/910500/ |p 7 | ||
| 999 | |a KXP-PPN1836535260 |e 4272939750 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"type":{"bibl":"article-journal","media":"Online-Ressource"},"person":[{"role":"aut","roleDisplay":"VerfasserIn","given":"Jefte M.","display":"Drijvers, Jefte M.","family":"Drijvers"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Lefeber, Dj","given":"Dj","family":"Lefeber"},{"family":"De Munnik","given":"Sa","roleDisplay":"VerfasserIn","display":"De Munnik, Sa","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Pfundt, R","given":"R","family":"Pfundt"},{"role":"aut","display":"Van De Leeuw, N","roleDisplay":"VerfasserIn","given":"N","family":"Van De Leeuw"},{"role":"aut","family":"Marcelis","display":"Marcelis, C","roleDisplay":"VerfasserIn","given":"C"},{"family":"Thiel","given":"Christian","roleDisplay":"VerfasserIn","display":"Thiel, Christian","role":"aut"},{"role":"aut","family":"Koerner","roleDisplay":"VerfasserIn","given":"C","display":"Koerner, C"},{"family":"Wevers","roleDisplay":"VerfasserIn","given":"Ra","display":"Wevers, Ra","role":"aut"},{"family":"Morava","roleDisplay":"VerfasserIn","given":"E","display":"Morava, E","role":"aut"}],"title":[{"title_sort":"Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations","title":"Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations"}],"id":{"doi":["10.1111/j.1399-0004.2009.01349.x"],"eki":["1836535260"]},"recId":"1836535260","name":{"displayForm":["JM Drijvers, DJ Lefeber, SA de Munnik, R Pfundt, N van de Leeuw, C Marcelis, C Thiel, C Koerner, RA Wevers, E Morava"]},"note":["Gesehen am 16.02.2023"],"relHost":[{"pubHistory":["1.1970 -"],"origin":[{"dateIssuedKey":"1970","publisherPlace":"Oxford ; Malden, Mass. ; Copenhagen ; Oxford [u.a.]","dateIssuedDisp":"1970-","publisher":"Wiley-Blackwell ; Wiley ; Munksgaard ; Blackwell"}],"id":{"doi":["10.1111/(ISSN)1399-0004"],"issn":["1399-0004"],"eki":["320437949"],"zdb":["2004581-5"]},"recId":"320437949","disp":"Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutationsClinical genetics","language":["eng"],"title":[{"title_sort":"Clinical genetics","title":"Clinical genetics"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"note":["Gesehen am 19.05.08"],"part":{"volume":"77","extent":"3","text":"77(2010), 5, Seite 507-509","issue":"5","year":"2010","pages":"507-509"},"physDesc":[{"extent":"Online-Ressource"}]}],"physDesc":[{"extent":"3 S."}],"language":["eng"],"origin":[{"dateIssuedKey":"2010","dateIssuedDisp":"9 April 2010"}]} | ||
| SRT | |a DRIJVERSJESKELETALDY9201 | ||