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1

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Mrosk, Julia, Gandham, SriLakshmi Bhavani, Shah, Hitesh, Hecht, Jochen, Krüger, Ulrike, Shukla, Anju, Kornak, Uwe, Girisha, Katta Mohan

Journal:

Year:

2018

Language:

english

File:

PDF, 2.48 MB

english, 2018

2

CLTC as a clinically novel gene associated with multiple malformations and developmental delay

DeMari, Joseph, Mroske, Cameron, Tang, Sha, Nimeh, Joseph, Miller, Ryan, Lebel, Robert R.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

3

Suppression of Allene Oxide Cyclase in Hairy Roots of Medicago truncatula Reduces Jasmonate Levels and the Degree of Mycorrhization with Glomus intraradices

Stanislav Isayenkov, Cornelia Mrosk, Irene Stenzel, Dieter Strack and Bettina Hause

Journal:

PLANT PHYSIOLOGY

Year:

2005

Language:

english

File:

PDF, 2.42 MB

english, 2005

4

A Capillary Electrophoresis Sequencing Method for the Identification of Mutations in the Inverted Terminal Repeats of Adeno-Associated Virus

Mroske, Cameron, Rivera, Hector, Ul-Hasan, Taihra, Chatterjee, Saswati, Wong, K.K.

Journal:

Human Gene Therapy Methods

Year:

2012

Language:

english

File:

PDF, 934 KB

english, 2012

5

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Farwell, Kelly D., Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Tippin Davis, Brigette, Baxter, Ruth M., Zeng, Wenqi, Mroske, Cameron, Parra, Melissa C., Gandomi, Stephanie K.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 879 KB

english, 2015

6

MRI Compatible Ultrasound Transducers for Simultaneous Acquisition of Coregistered Ultrasound to MRI Data

Speicher, Daniel, Bartscherer, T., Becker, F.J., Jenne, J.W., Mrosk, K., Degel, C., Günther, M., Tretbar, S.

Journal:

Physics Procedia

Year:

2015

Language:

english

File:

PDF, 896 KB

english, 2015

7

The clinical effect of arrhythmia monitoring after myocardial infarction (BIO-GUARD|MI):study protocol for a randomized controlled trial

Jons, Christian, Sogaard, Peter, Behrens, Steffen, Schrader, Jürgen, Mrosk, Sascha, Bloch Thomsen, Poul Erik

Journal:

Year:

2019

File:

PDF, 1004 KB

2019

8

Dependence of the Atomic Magnetic Moment on the Lattice Parameter in Iron

G. Röpke, E. Mrosk

Journal:

physica status solidi (b)

Year:

1972

Language:

english

File:

PDF, 184 KB

english, 1972

9

Jasmonate biosynthesis in legume and actinorhizal nodules

Anna Zdyb, Kirill Demchenko, Jan Heumann, Cornelia Mrosk, Peter Grzeganek, Cornelia Göbel, Ivo Feussner, Katharina Pawlowski, Bettina Hause

Journal:

New Phytologist

Year:

2011

Language:

english

File:

PDF, 893 KB

english, 2011

10

TNF ligands (communication arising): Is TALL-1 a trimer or a virus-like cluster?

Zhukovsky, Eugene A., Lee, Jie-Oh, Villegas, Michael, Chan, Cheryl, Chu, Seung, Mroske, Cameron

Journal:

Year:

2004

Language:

english

File:

PDF, 198 KB

english, 2004

11

Materials issues of SAW sensors for high-temperature applications

Mrosk, J.W., Berger, L., Ettl, C., Fecht, H.-J., Fischerauer, G., Dommann, A.

Journal:

IEEE Transactions on Industrial Electronics

Year:

2001

Language:

english

File:

PDF, 141 KB

english, 2001

12

[IEEE 2013 81st ARFTG Microwave Measurement Conference (ARFTG) - Seattle, WA, USA (2013.06.7-2013.06.7)] 81st ARFTG Microwave Measurement Conference - Residual errors in coplanar on-chip 1-port calibration caused by standard deviations

Berndt, Sebastian, Mrosk, Till, Doerner, Ralf, Lenk, Friedrich

Year:

2013

Language:

english

File:

PDF, 144 KB

english, 2013

13

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

Mroske, Cameron, Rasmussen, Kristen, Shinde, Deepali N., Huether, Robert, Powis, Zoe, Lu, Hsiao-Mei, Baxter, Ruth M., McPherson, Elizabeth, Tang, Sha

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.46 MB

english, 2015

14

[IEEE 2000 IEEE International Conference on Industrial Electronics, Control and Instrumentation - Nagoya, Japan (22-28 Oct. 2000)] 2000 26th Annual Conference of the IEEE Industrial Electronics Society. IECON 2000. 2000 IEEE International Conference on Industrial Electronics, Control and Instrumentation. 21st Century Technologies and Industrial Opportunities (Cat. No.00CH37141) - Migration-resistant amorphous AlY metallizations for surface acoustic wave filters

Berger, L., Mrosk, J.W., Ettl, C., Fecht, H.J., Wolff, U.

Year:

2000

Language:

english

File:

PDF, 1.11 MB

english, 2000

15

Jasmonate biosynthesis in legume and actinorhizal nodules

Anna Zdyb, Krill Demchenko, Jan Heumann, Cornelia Mrosk, Peter Grzeganek, Cornelia Göbel, Ivo Feussner, Katharina Pawlowski and Bettina Hause

Journal:

New Phytologist

Year:

2011

Language:

english

File:

PDF, 2.53 MB

english, 2011

16

Erratum: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sa

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 66 KB

english, 2018

17

The clinical effect of arrhythmia monitoring after myocardial infarction (BIO-GUARD|MI):study protocol for a randomized controlled trial

Jons, Christian, Sogaard, Peter, Behrens, Steffen, Schrader, Jürgen, Mrosk, Sascha, Bloch Thomsen, Poul Erik

Journal:

Year:

2019

Language:

english

File:

PDF, 1004 KB

english, 2019

18

[AEA Technol Third European Conference on High Temperature Electronics - Berlin, Germany (4-7 July 1999)] HITEN 99. Third European Conference on High Temperature Electronics. (IEEE Cat. No.99EX372) - Electrical contacts and degradation mechanisms

Fecht, H.-J., Mrosk, J.W., Werner, M.

Year:

1999

Language:

english

File:

PDF, 398 KB

english, 1999

19

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L.D., Nagakura, H., Cunniff, C., Payne, K., Barbaro-Di

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

20

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability

Helbig, K.L., Mroske, C., Moorthy, D., Sajan, S.A., Velinov, M.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

21

Composite Medicago truncatula plants harbouring Agrobacterium rhizogenes-transformed roots reveal normal mycorrhization by Glomus intraradices

Mrosk, C., Forner, S., Hause, G., Kuster, H., Kopka, J., Hause, B.

Journal:

Journal of Experimental Botany

Year:

2009

Language:

english

File:

PDF, 501 KB

english, 2009

22

Characterization of prostaglandin endoperoxide H synthase-1 enzyme expression during differentiation of the megakaryocytic cell line MEG-01

Cameron Mroske, Matthew H. Plant, Douglas J. Franks, Odette Laneuville

Journal:

Experimental Hematology

Year:

2000

Language:

english

File:

PDF, 884 KB

english, 2000

23

Jasmonates in arbuscular mycorrhizal interactions

Bettina Hause, Cornelia Mrosk, Stanislav Isayenkov, Dieter Strack

Journal:

Year:

2007

Language:

english

File:

PDF, 296 KB

english, 2007

24

Synthesis and Properties of Al-Based Amorphous and Nanocrystalline Thin Films

Berger, L., Mrosk, J.W., Ettl, Ch., Fecht, Hans J.

Journal:

Journal of Metastable and Nanocrystalline Materials

Year:

2002

Language:

english

File:

PDF, 535 KB

english, 2002

25

Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S

Cameron Mroske, John Muci, Jicheng Wang, Kai Li, Wenjia Song, Jin Yan, Jinong Feng, Qiang Liu, Steve S. Sommer

Journal:

Analytical Biochemistry

Year:

2007

Language:

english

File:

PDF, 985 KB

english, 2007

26

Synthesis and Properties of Al-Based Amorphous and Nanocrystalline Thin Films

Berger, L., Mrosk, J.W., Ettl, Ch., Fecht, Hans J.

Journal:

Materials Science Forum

Year:

2002

Language:

english

File:

PDF, 535 KB

english, 2002

27

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 879 KB

english, 2016

28

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Helbig, Katherine L., Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Powis, Zöe, Li, Shuwei, Tang, Sha, Helbig, Ingo

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 508 KB

english, 2016

29

A fluorescence microscopy method for quantifying the detection of prostaglandin endoperoxide H synthase-1 and CD-41 in MEG-01 cells

Douglas J. Franks, Cameron Mroske, Odette Laneuville

Journal:

Biological Procedures Online

Year:

2001

Language:

english

File:

PDF, 318 KB

english, 2001

30

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Liu, Ning, Schoch, Kelly, Luo, Xi, Pena, Loren, Bhavana, Venkata Hemanjani, Kukolich, Mary K, Stringer, Sarah, Powis, Zöe, Radtke, Kelly, Mroske, Cameron, Deak, Kristen, McDonald, Marie T, McConkie-Ro

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.15 MB

english, 2018

31

Synthesis and Properties of Al-Based Amorphous and Microcrystalline Thin Films

Ettl, Christoph, Berger, Lothar, Mrosk, Joachim W., Fecht, Hans-Jörg

Journal:

MRS Proceedings

Year:

2001

Language:

english

File:

PDF, 482 KB

english, 2001

32

[IEEE IECON'99. Conference Proceedings. 25th Annual Conference of the IEEE Industrial Electronics Society - San Jose, CA, USA (29 Nov.-3 Dec. 1999)] IECON'99. Conference Proceedings. 25th Annual Conference of the IEEE Industrial Electronics Society (Cat. No.99CH37029) - Properties of amorphous AlCuY alloy metallizations

Berger, L., Mrosk, J.W., Ettl, C., Fecht, H.J., Flege, S., Hahn, H., Wolff, U.

Year:

1999

Language:

english

File:

PDF, 403 KB

english, 1999

33

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1 , Associated with Autosomal-Dominant Hereditary Connective Tissue Disease

Capuano, Alessandra, Bucciotti, Francesco, Farwell, Kelly D., Tippin Davis, Brigette, Mroske, Cameron, Hulick, Peter J., Weissman, Scott M., Gao, Qingshen, Spessotto, Paola, Colombatti, Alfonso, Dolia

Journal:

Year:

2016

Language:

english

File:

PDF, 3.81 MB

english, 2016

34

[BMJ Publishing Group Ltd. SNIS 17TH ANNUAL MEETING - ()] Electronic Poster Abstracts - E-196âThe risk of ischemia in preventive temporary artery occlusion of the contralateral anterior cerebral artery during microsurgical clipping of ACOM aneurysms

Wipplinger, C, Mrosk, F, TÃ¼lÃ¼, S, Preuss-Hernandez, C, Ho, W, GÃ¶rke, A, Ortler, M, Petr, O, ThomÃ©, C

File:

PDF, 195 KB

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