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1

Analysis of continuous neuronal activity evoked by natural speech with computational corpus linguistics methods

Schilling, Achim, Tomasello, Rosario, Henningsen-Schomers, Malte R., Zankl, Alexandra, Surendra, Kishore, Haller, Martin, Karl, Valerie, Uhrig, Peter, Maier, Andreas, Krauss, Patrick

Journal:

Language, Cognition and Neuroscience

Année:

2020

Fichier:

PDF, 4.18 MB

2020

2

High-Resolution Millimeter-Wave Tomography System for Nondestructive Testing of Low-Permittivity Materials

Och, Andreas, Holzl, Patrick A., Schuster, Stefan, Scheiblhofer, Stefan, Zankl, Dominik, Pathuri-Bhuvana, Venkata, Weigel, Robert

Journal:

IEEE Transactions on Microwave Theory and Techniques

Année:

2021

Fichier:

PDF, 2.19 MB

2021

3

Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years

Andreas Zankl, Lukas Eberle, Luciano Molinari, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 185 KB

english, 2002

4

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or a new entity?

Andreas Zankl, H. Scheffer, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 366 KB

english, 2004

5

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

Russia Ha-Vinh, Yasemin Alanay, Ruud A. Bank, Ana Belinda Campos-Xavier, Andreas Zankl, Andrea Superti-Furga, Luisa Bonafé

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 154 KB

english, 2004

6

BLASTDAR—A Large Radar Sensor Array System for Blast Furnace Burden Surface Imaging

Zankl, Dominik, Schuster, Stefan, Feger, Reinhard, Stelzer, Andreas, Scheiblhofer, Stefan, Schmid, Christian M., Ossberger, Gerald, Stegfellner, Leopold, Lengauer, Gunter, Feilmayr, Christoph, Lackner

Journal:

IEEE Sensors Journal

Année:

2015

Langue:

english

Fichier:

PDF, 5.86 MB

english, 2015

7

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait

Gu, Su-Min, Orth, Ulrike, Zankl, Merve, Schröder, Jutta, Gal, Andreas

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 611 KB

english, 1997

8

Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome

Andreas Zankl, Marie-Claude Addor, Anne-Claude Gaide, Francine Thonney, Pascal Cousin, Daniel F. Schorderet, François Gudinchet, Maja Nenadov-Beck

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 151 KB

english, 2000

9

Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient

Andreas Zankl, Tayfun Güngör, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 207 KB

english, 2003

10

Brachmann–de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative bdls gene mutation?

Andreas Zankl, Antonio Rampa, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 132 KB

english, 2003

11

ABase—A tool for the rapid assessment of anthropometric measurements on handheld computers

Andreas Zankl, Luciano Molinari

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 170 KB

english, 2003

12

Natural history of twin disruption sequence

Andreas Zankl, Daniela Brooks, Eugen Boltshauser, Remo Largo, Albert Schinzel

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 131 KB

english, 2004

13

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

Andreas Zankl, Bernhard Zabel, Katja Hilbert, Gabi Wildhardt, Segoleine Cuenot, Belinda Xavier, Russia Ha-Vinh, Luisa Bonafé, Jürgen Spranger, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 144 KB

english, 2004

14

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome

Andreas Zankl, Gudrun Jaeger, Luisa Bonafé, Eugen Boltshauser, Andrea Superti-Furga

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 60 KB

english, 2004

15

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

Andreas Zankl, Luitgard Neumann, Jaako Ignatius, Peter Nikkels, Connie Schrander-Stumpel, Geert Mortier, Heymut Omran, Michael Wright, Katja Hilbert, Luisa Bonafé, Juergen Spranger, Bernhard Zabel, An

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 264 KB

english, 2005

16

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9

Barbara Kloeckener-Gruissem, David R. Betts, Andreas Zankl, Wolfgang Berger, Tayfun Güngör

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 177 KB

english, 2005

17

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9 (Am J Med Genet 136A: 31–37, 2005)

Barbara Kloeckener-Gruissem, David R. Betts, Andreas Zankl, Wolfgang Berger, Tayfun Güngör

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 29 KB

english, 2005

18

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation

Andreas Zankl, George Elakis, Rachel D. Susman, Garry Inglis, Glenn Gardener, Michael F. Buckley, Tony Roscioli

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 265 KB

english, 2008

19

Specific ultrasonographic features of perinatal lethal hypophosphatasia

Andreas Zankl, Etienne Mornet, Shell Wong

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 182 KB

english, 2008

20

Septo-optic dysplasia and associations with amyoplasia and gastroschisis

Benjamin Kamien, Andreas Zankl, Michael Gabbett

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2010

Langue:

english

Fichier:

PDF, 962 KB

english, 2010

21

A characteristic EEG pattern in 4p-syndrome: case report and review of the literature

Andreas Zankl, Marie-Claude Addor, Malin Maeder-Ingvar, Daniel F. Schorderet

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 199 KB

english, 2001

22

Functional performance in young Australian children with achondroplasia

PENELOPE JANE IRELAND, JAMES MCGILL, ANDREAS ZANKL, ROBERT S WARE, VERITY PACEY, JENNY AULT, RAVI SAVARIRAYAN, DAVID SILLENCE, ELIZABETH M THOMPSON, SHARRON TOWNSHEND, LEANNE MARIE JOHNSTON

Journal:

Developmental Medicine & Child Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 188 KB

english, 2011

23

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Merrer, Martine Le

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 154 KB

english, 2006

24

Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome

Andreas Zankl, Lauren Pachman, Andrew Poznanski, Luisa Bonafé, Fengqiang Wang, Yelena Shusterman, David A Fishman, Andrea Superti-Furga

Journal:

Journal of Bone and Mineral Research

Année:

2007

Langue:

english

Fichier:

PDF, 779 KB

english, 2007

25

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Paulien A. Terhal, Paula van Dommelen, Martine Le Merrer, Andreas Zankl, Marleen E.H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Esther Kinning, Sahar Mansour, Raoul C.M. Hennekam, Annema

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 964 KB

english, 2012

26

Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene

Zankl, Andreas, Addor, Marie-Claude, Cousin, Pascal, Gaide, Anne-Claude, Gudinchet, Fran&#x000E7, ois, Schorderet, Daniel F.

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 112 KB

english, 2001

27

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul J. Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P. Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. M

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 903 KB

english, 2012

28

Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0–5 years

Penelope J Ireland, Sarah Johnson, Samantha Donaghey, Leanne Johnston, Robert S Ware, Andreas Zankl, Verity Pacey, Jenny Ault, Ravi Savarirayan, David Sillence, Elizabeth Thompson, Sharron Townshend,

Journal:

Journal of Paediatrics and Child Health

Année:

2012

Langue:

english

Fichier:

PDF, 529 KB

english, 2012

29

Development in children with achondroplasia: a prospective clinical cohort study

PENELOPE J IRELAND, SAMANTHA DONAGHEY, JAMES McGILL, ANDREAS ZANKL, ROBERT S WARE, VERITY PACEY, JENNY AULT, RAVI SAVARIRAYAN, DAVID SILLENCE, ELIZABETH THOMPSON, SHARRON TOWNSHEND, LEANNE M JOHNSTON

Journal:

Developmental Medicine & Child Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 104 KB

english, 2012

30

Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))—Causal relationship or coincidence?

Johannes R. Lemke, Stefanie Beck-Wödl, Andreas Zankl, Mariluce Riegel, Günter Krämer, Thomas Dorn

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 303 KB

english, 2009

31

The agnion Heatpipe-Reformer—operating experiences and evaluation of fuel conversion and syngas composition

Georg Gallmetzer, Pascal Ackermann, Andreas Schweiger, Thomas Kienberger, Thomas Gröbl, Heimo Walter, Markus Zankl, Martin Kröner

Journal:

Biomass Conversion and Biorefinery

Année:

2012

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2012

32

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods

Tudor Groza, Jane Hunter, Andreas Zankl

Journal:

BMC Bioinformatics

Année:

2012

Langue:

english

Fichier:

PDF, 227 KB

english, 2012

33

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

Tudor Groza, Jane Hunter, Andreas Zankl

Journal:

BMC Bioinformatics

Année:

2012

Langue:

english

Fichier:

PDF, 507 KB

english, 2012

34

The effect of height, weight and head circumference on gross motor development in achondroplasia

Ireland, Penelope Jane, Ware, Robert S, Donaghey, Samantha, McGill, James, Zankl, Andreas, Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron, John

Journal:

Journal of Paediatrics and Child Health

Année:

2013

Langue:

english

Fichier:

PDF, 269 KB

english, 2013

35

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephe

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 50 KB

english, 2014

36

SOUTHAMPTON.

Paul, Razan, Groza, Tudor, Hunter, Jane, Zankl, Andreas

Journal:

Année:

1866

Langue:

english

Fichier:

PDF, 401 KB

english, 1866

37

Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain

Paul, Razan, Groza, Tudor, Hunter, Jane, Zankl, Andreas

Journal:

Journal of Biomedical Informatics

Année:

2014

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2014

38

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain

Paul, Razan, Groza, Tudor, Hunter, Jane, Zankl, Andreas

Journal:

Journal of Biomedical Semantics

Année:

2014

Langue:

english

Fichier:

PDF, 270 KB

english, 2014

39

[IEEE 2008 Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics (MEDIVIS) - London, TBD, UK (2008.07.9-2008.07.11)] 2008 Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics - 3D Visualisation of the Radiological Features of Type II Collagenopathies Associated with Skeletal Dysplasias

Wyeld, Theodor, Zankl, Andreas

Année:

2008

Langue:

english

Fichier:

PDF, 446 KB

english, 2008

40

[IEEE 2013 Eighth International Conference on Availability, Reliability and Security (ARES) - Regensburg, Germany (2013.09.2-2013.09.6)] 2013 International Conference on Availability, Reliability and Security - Minimizing the Costs of Side-Channel Analysis Resistance Evaluations in Early Design Steps

Korak, Thomas, Plos, Thomas, Zankl, Andreas

Année:

2013

Langue:

english

Fichier:

PDF, 991 KB

english, 2013

41

[IEEE International Conference on Medical Information Visualisation - BioMedical Visualisation (MediVis 2007) - Zurich, Switzerland (2007.07.4-2007.07.6)] International Conference on Medical Information Visualisation - BioMedical Visualisation (MediVis 2007) - Visualising A Skeletal Dysplasia Knowledgebase

Jakobsen, Ingrid B, Wyeld, Theodor G, Hansen, David P, Zankl, Andreas

Année:

2007

Langue:

english

Fichier:

PDF, 452 KB

english, 2007

42

Targeting glycosaminoglycans in the lung by an engineered CXCL8 as a novel therapeutic approach to lung inflammation

Adage, Tiziana, Konya, Viktoria, Weber, Corinna, Strutzmann, Elisabeth, Fuchs, Thomas, Zankl, Christina, Gerlza, Tanja, Jeremic, Dalibor, Heinemann, Akos, Kungl, Andreas J.

Journal:

European Journal of Pharmacology

Année:

2015

Langue:

english

Fichier:

PDF, 2.45 MB

english, 2015

43

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Terhal, Paulien A., Nievelstein, Rutger Jan A. J., Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sar

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2015

44

Capturing domain knowledge from multiple sources: the rare bone disorders use case

Groza, Tudor, Tudorache, Tania, Robinson, Peter N, Zankl, Andreas

Journal:

Journal of Biomedical Semantics

Année:

2015

Langue:

english

Fichier:

PDF, 536 KB

english, 2015

45

Decomposing Phenotype Descriptions for the Human Skeletal Phenome

Groza,, Groza,, Jane Hunter,, Andreas Zankl,

Journal:

Biomedical Informatics Insights

Année:

2013

Langue:

english

Fichier:

PDF, 898 KB

english, 2013

46

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

Bonafé, Luisa, Dermitzakis, Emmanouil T., Unger, Sheila, Greenberg, Cheryl R., Campos-Xavier, Belinda A., Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E., Superti-Furga, Andrea, Reymond, Al

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 857 KB

english, 2005

47

Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature

Ekbote, Alka V., Danda, Sumita, Zankl, Andreas, Mandal, Kausik, Maguire, Tina, Ungerer, Kobus

Journal:

Journal of Clinical Research in Pediatric Endocrinology

Année:

2014

Langue:

english

Fichier:

PDF, 137 KB

english, 2014

48

Efficient probabilistic reverse nearest neighbor query processing on uncertain data

Bernecker, Thomas, Emrich, Tobias, Kriegel, Hans-Peter, Renz, Matthias, Zankl, Stefan, Züfle, Andreas

Journal:

Proceedings of the VLDB Endowment

Année:

2011

Langue:

english

Fichier:

PDF, 478 KB

english, 2011

49

Phenotyping: Targeting genotype's rich cousin for diagnosis

Baynam, Gareth, Walters, Mark, Claes, Peter, Kung, Stefanie, LeSouef, Peter, Dawkins, Hugh, Bellgard, Matthew, Girdea, Marta, Brudno, Michael, Robinson, Peter, Zankl, Andreas, Groza, Tudor, Gillett, D

Journal:

Journal of Paediatrics and Child Health

Année:

2014

Langue:

english

Fichier:

PDF, 121 KB

english, 2014

50

Designing a mutant CCL2-HSA chimera with high glycosaminoglycan-binding affinity and selectivity

Gerlza, Tanja, Winkler, Sophie, Atlic, Aid, Zankl, Christina, Konya, Viktoria, Kitic, Nikola, Strutzmann, Elisabeth, Knebl, Kerstin, Adage, Tiziana, Heinemann, Akos, Weis, Roland, Kungl, Andreas J.

Journal:

Protein Engineering Design and Selection

Année:

2015

Langue:

english

Fichier:

PDF, 644 KB

english, 2015