View publication

Publication

Property	Value
Working Groups	AG Wollnik
Subproject	D02
Open Access	Yes
Publication Type	Journal Article
Peer Reviewed	Unknown
PMID	30057030
DOI	10.1016/j.ajhg.2018.07.001
Publication Year	2018
Title	Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Journal	American Journal of Human Genetics
ISSN	0002-9297
URL	https://www.sciencedirect.com/science/article/pii/S0002929718302283?via%3Dihub
Journal Abbreviation	Am J Hum Genet
Authors	Martin C, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BA, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesais A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP
First Author	Martin C
Last Author	Jackson AP

ars.els-...c2.pdfhttps://ars.els-cdn.com/content/image/1-s2.0-S0002929718302283-mmc2.pdf Article + Supplemental material

gro-2/57617http://resolver.sub.uni-goettingen.de/purl?gro-2/57617 GRO.publications identifier

9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI Taxonomy (Homo sapiens)

0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID Identifier (Bernd Wollnik)

01ygm5w19https://ror.org/01ygm5w19 ROR identifier (01ygm5w19, Centre for Biomedical Network Research on Rare Diseases)

00khjyb83https://ror.org/00khjyb83 ROR identifier (00khjyb83, Chiba Children's Hospital)

00hj8s172https://ror.org/00hj8s172 ROR identifier (00hj8s172, Columbia University)

04czxss33https://ror.org/04czxss33 ROR identifier (04czxss33, Dubai Hospital)

04r33pf22https://ror.org/04r33pf22 ROR identifier (04r33pf22, Guy's Hospital)

059n1d175https://ror.org/059n1d175 ROR identifier (059n1d175, Hospital de Sant Pau)

057q4rt57https://ror.org/057q4rt57 ROR identifier (057q4rt57, Hospital for Sick Children)

00qyh5r35https://ror.org/00qyh5r35 ROR identifier (00qyh5r35, Hospital Universitario 12 De Octubre)

01s1q0w69https://ror.org/01s1q0w69 ROR identifier (01s1q0w69, Hospital Universitario La Paz)

01692sz90https://ror.org/01692sz90 ROR identifier (01692sz90, Juntendo University)

05n0wgt02https://ror.org/05n0wgt02 ROR identifier (05n0wgt02, King Faisal Specialist Hospital & Research Centre)

02kswqa67https://ror.org/02kswqa67 ROR identifier (02kswqa67, Marmara University)

04haebc03https://ror.org/04haebc03 ROR identifier (04haebc03, Memorial University of Newfoundland)

01kj2bm70https://ror.org/01kj2bm70 ROR identifier (01kj2bm70, Newcastle University)

04zb31v77https://ror.org/04zb31v77 ROR identifier (04zb31v77, Saitama Medical University)

01cby8j38https://ror.org/01cby8j38 ROR identifier (01cby8j38, Universidad Autónoma de Madrid)

052g8jq94https://ror.org/052g8jq94 ROR identifier (052g8jq94, Universitat Autònoma de Barcelona)

02jx3x895https://ror.org/02jx3x895 ROR identifier (02jx3x895, University College London)

021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)

00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)

035b05819https://ror.org/035b05819 ROR identifier (035b05819, University of Copenhagen)

01nrxwf90https://ror.org/01nrxwf90 ROR identifier (01nrxwf90, University of Edinburgh)

ars.els-...c1.pdfhttps://ars.els-cdn.com/content/image/1-s2.0-S0002929718302283-mmc1.pdf Supplemental material

Q57753425https://www.wikidata.org/wiki/Q57753425 Wikidata ID

Department of Medical Informatics
University Medical Center Göttingen
Imprint