Search the collection

108 results for Zerres,+Klaus

Sort by:

Sort by

Limit results to:

20 per page

108 results for Zerres,+Klaus

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
Author / Creator:Lu, Hao ; Galeano, Maria C Rondón ; Ott, Elisabeth ; Kaeslin, Geraldine ; Kausalya, P Jaya ; Kramer, Carina ; Ortiz-Brüchle, Nadina ; Hilger, Nadescha ; Metzis, Vicki ; Hiersche, Milan ; Tay, Shang Yew ; Tunningley, Robert ; Vij, Shubha ; Courtney, Andrew D ; Whittle, Belinda ; Wühl, Elke ; Vester, Udo ; Hartleben, Björn ; Neuber, Steffen ; Frank, Valeska ; Little, Melissa H ; Epting, Daniel ; Papathanasiou, Peter ; Perkins, Andrew C ; Wright, Graham D ; Hunziker, Walter ; Gee, Heon Yung ; Otto, Edgar A ; Zerres, Klaus ; Hildebrandt, Friedhelm ; Roy, Sudipto ; Wicking, Carol ; Bergmann, Carsten
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-07, Vol.49 (7), p.1025-1034
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Cystinuria: an inborn cause of urolithiasis
Author / Creator:Eggermann, Thomas ; Venghaus, Andreas ; Zerres, Klaus
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2012-04, Vol.7 (1), p.19-19
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Author / Creator:Wan, Jijun ; Yourshaw, Michael ; Mamsa, Hafsa ; Rudnik-Schöneborn, Sabine ; Menezes, Manoj P ; Hong, Ji Eun ; Leong, Derek W ; Senderek, Jan ; Salman, Michael S ; Chitayat, David ; Seeman, Pavel ; von Moers, Arpad ; Graul-Neumann, Luitgard ; Kornberg, Andrew J ; Castro-Gago, Manuel ; Sobrido, María-Jesús ; Sanefuji, Masafumi ; Shieh, Perry B ; Salamon, Noriko ; Kim, Ronald C ; Vinters, Harry V ; Chen, Zugen ; Zerres, Klaus ; Ryan, Monique M ; Nelson, Stanley F ; Jen, Joanna C
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-06, Vol.44 (6), p.704-708
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Mutations in TRPV4 cause an inherited arthropathy of hands and feet
Author / Creator:Lamandé, Shireen R ; Yuan, Yuan ; Gresshoff, Irma L ; Rowley, Lynn ; Belluoccio, Daniele ; Kaluarachchi, Kumara ; Little, Christopher B ; Botzenhart, Elke ; Zerres, Klaus ; Amor, David J ; Cole, William G ; Savarirayan, Ravi ; McIntyre, Peter ; Bateman, John F
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2011-11, Vol.43 (11), p.1142-1146
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals
Author / Creator:Krug, Axel ; Nieratschker, Vanessa ; Markov, Valentin ; Krach, Sören ; Jansen, Andreas ; Zerres, Klaus ; Eggermann, Thomas ; Stöcker, Tony ; Shah, N. Jon ; Treutlein, Jens ; Mühleisen, Thomas W. ; Kircher, Tilo
Publisher:United States: Elsevier Inc
Journal title:NeuroImage (Orlando, Fla.), 2010-01, Vol.49 (2), p.1831-1836
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Serotonergic Contributions to Human Brain Aggression Networks
Author / Creator:Klasen, Martin ; Wolf, Dhana ; Eisner, Patrick D. ; Eggermann, Thomas ; Zerres, Klaus ; Zepf, Florian D. ; Weber, René ; Mathiak, Klaus
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2019-02, Vol.13, p.42-42
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Germ-Line Mutations in Nonsyndromic Pheochromocytoma
Author / Creator:Neumann, Hartmut P.H ; Bausch, Birke ; McWhinney, Sarah R ; Bender, Bernhard U ; Gimm, Oliver ; Franke, Gerlind ; Schipper, Joerg ; Klisch, Joachim ; Altehoefer, Carsten ; Zerres, Klaus ; Januszewicz, Andrzej ; Smith, Wendy M ; Munk, Robin ; Manz, Tanja ; Glaesker, Sven ; Apel, Thomas W ; Treier, Markus ; Reineke, Martin ; Walz, Martin K ; Hoang-Vu, Cuong ; Brauckhoff, Michael ; Klein-Franke, Andreas ; Klose, Peter ; Schmidt, Heinrich ; Maier-Woelfle, Margarete ; Peçzkowska, Mariola ; Szmigielski, Cesary ; Eng, Charis
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2002-05, Vol.346 (19), p.1459-1466
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Author / Creator:Zenker, Martin ; Mayerle, Julia ; Lerch, Markus M ; Tagariello, Andreas ; Zerres, Klaus ; Durie, Peter R ; Beier, Matthias ; Hülskamp, Georg ; Guzman, Celina ; Rehder, Helga ; Beemer, Frits A ; Hamel, Ben ; Vanlieferinghen, Philippe ; Gershoni-Baruch, Ruth ; Vieira, Marta W ; Dumic, Miroslav ; Auslender, Ron ; Gil-da-Silva-Lopes, Vera L ; Steinlicht, Simone ; Rauh, Manfred ; Shalev, Stavit A ; Thiel, Christian ; Winterpacht, Andreas ; Kwon, Yong Tae ; Varshavsky, Alexander ; Reis, André
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-12, Vol.37 (12), p.1345-1350
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing
Author / Creator:Kirschner, Martin M. J. ; Schemionek, Mirle ; Schubert, Claudia ; Chatain, Nicolas ; Sontag, Stephanie ; Isfort, Susanne ; Ortiz-Brüchle, Nadina ; Schmitt, Karla ; Krüger, Luisa ; Zerres, Klaus ; Zenke, Martin ; Brümmendorf, Tim H. ; Koschmieder, Steffen
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-04, Vol.10 (4), p.e0123476-e0123476
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Early manifestations of polycystic kidney disease
Author / Creator:Bergmann, Carsten ; Zerres, Klaus
Publisher:England: Elsevier Limited
Journal title:The Lancet (British edition), 2007-06, Vol.369 (9580), p.2157-2157
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Determination of SMN1 and SMN2 copy number using TaqMan™ technology
Author / Creator:Anhuf, Dirk ; Eggermann, Thomas ; Rudnik-Schöneborn, Sabine ; Zerres, Klaus
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-07, Vol.22 (1), p.74-78
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4
Author / Creator:Brüchle, Nadina Ortiz ; Frank, Jorge ; Frank, Valeska ; Senderek, Jan ; Akar, Ahmet ; Koc, Erol ; Rigopoulos, Dimitris ; van Steensel, Maurice ; Zerres, Klaus ; Bergmann, Carsten
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2008-04, Vol.128 (4), p.791-796
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
Author / Creator:Bergmann, Carsten ; Frank, Valeska ; Küpper, Fabian ; Schmidt, Christa ; Senderek, Jan ; Zerres, Klaus
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2006-09, Vol.51 (9), p.788-793
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
The mTOR Pathway Is Activated in Human Autosomal-Recessive Polycystic Kidney Disease
Author / Creator:Becker, Jan Ulrich ; Opazo Saez, Anabelle ; Zerres, Klaus ; Witzke, Oliver ; Hoyer, Peter Friedrich ; Schmid, Kurt Werner ; Kribben, Andreas ; Bergmann, Carsten ; Nürnberger, Jens
Publisher:Basel: S. Karger AG
Journal title:Kidney & blood pressure research, 2010-01, Vol.33 (2), p.129
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects
Author / Creator:Jansen, Andreas ; Krach, Sören ; Krug, Axel ; Markov, Valentin ; Eggermann, Thomas ; Zerres, Klaus ; Thimm, Markus ; Nöthen, Markus M ; Treutlein, Jens ; Rietschel, Marcella ; Kircher, Tilo
Publisher:England: BioMed Central Ltd
Journal title:BMC psychiatry, 2009-09, Vol.9 (1), p.60-60, Article 60
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
The effects of a DTNBP1 gene variant on attention networks: an fMRI study
Author / Creator:Thimm, Markus ; Krug, Axel ; Kellermann, Thilo ; Markov, Valentin ; Krach, Sören ; Jansen, Andreas ; Zerres, Klaus ; Eggermann, Thomas ; Stöcker, Tony ; Shah, N Jon ; Nöthen, Markus M ; Rietschel, Marcella ; Kircher, Tilo
Publisher:England: BioMed Central
Journal title:Behavioral and brain functions, 2010-09, Vol.6 (1), p.54-54
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
Author / Creator:Rudnik-Schöneborn, Sabine ; Botzenhart, Elke ; Eggermann, Thomas ; Senderek, Jan ; Schoser, Benedikt G. H. ; Schröder, Rolf ; Wehnert, Manfred ; Wirth, Brunhilde ; Zerres, Klaus
Publisher:Berlin: Springer
Journal title:Neurogenetics, 2007-04, Vol.8 (2), p.137-142
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Genetic Analysis of the Angiotensinogen Gene in Pre-Eclampsia: Study of German Women and Review of the Literature
Author / Creator:Knyrim, Elke ; Muetze, Sabine ; Eggermann, Thomas ; Rudnik-Schoeneborn, Sabine ; Lindt, Ria ; Ortlepp, Jan R. ; Rath, Werner ; Zerres, Klaus
Publisher:Basel, Switzerland: Karger
Journal title:Gynecologic and obstetric investigation, 2008-01, Vol.66 (3), p.203-208
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene
Author / Creator:Eggermann, Thomas ; Zerres, Klaus ; Anhuf, Dirk ; Kotzot, Dieter ; Fauth, Christine ; Rudnik-Schöneborn, Sabine
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.309-313
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Corrigendum to "Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals" NeuroImage volume 49 (2010) 1831-1836
Author / Creator:Krug, Axel ; Nieratschker, Vanessa ; Markov, Valentin ; Krach, Sören ; Jansen, Andreas ; Zerres, Klaus ; Eggermann, Thomas ; Stöcker, Tony ; Jon Shah, N ; Treutlein, Jens ; Mühleisen, Thomas W ; Kircher, Tilo
Journal title:NeuroImage (Orlando, Fla.), 2024-08, Vol.297, p.120741
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 108 results

Export record to excel

Export this record

Export record to excel

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Export this record

Export record to excel

Cystinuria: an inborn cause of urolithiasis

Export this record

Export record to excel

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Export this record

Export record to excel

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Export this record

Export record to excel

Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals

Export this record

Export record to excel

Serotonergic Contributions to Human Brain Aggression Networks

Export this record

Export record to excel

Germ-Line Mutations in Nonsyndromic Pheochromocytoma

Export this record

Export record to excel

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Export this record

Export record to excel

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Export this record

Export record to excel

Early manifestations of polycystic kidney disease

Export this record

Export record to excel

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Export this record

Export record to excel

RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4

Export this record

Export record to excel

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease

Export this record

Export record to excel

The mTOR Pathway Is Activated in Human Autosomal-Recessive Polycystic Kidney Disease

Export this record

Export record to excel

Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects

Export this record

Export record to excel

The effects of a DTNBP1 gene variant on attention networks: an fMRI study

Export this record

Export record to excel

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

Export this record

Export record to excel

Genetic Analysis of the Angiotensinogen Gene in Pre-Eclampsia: Study of German Women and Review of the Literature

Export this record

Export record to excel

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene

Export this record

Export record to excel

Corrigendum to "Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals" NeuroImage volume 49 (2010) 1831-1836

Refine your search