Engel, Hartmut : rechercher sur Z-Library

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1

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations

Dennert, Nicola, Engels, Hartmut, Cremer, Kirsten, Becker, Jessica, Wohlleber, Eva, Albrecht, Beate, Ehret, Julia K., Lüdecke, Hermann-Josef, Suri, Mohnish, Carignani, Giulia, Renieri, Alessandra, Kuk

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 792 KB

english, 2016

2

Further case of Cantú syndrome: Exclusion of cryptic subtelomeric chromosome aberrations

Hartmut Engels, Kristin Bosse, Antje Ehrbrecht, Susanne Zahn, Alexander Hoischen, Peter Propping, Lutz Bindl, Heiko Reutter

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 131 KB

english, 2002

3

Phospholipid hydroperoxide glutathione peroxidase: expression pattern during testicular development in mouse and evolutionary conservation in spermatozoa

Karim Nayernia, Mihaela Diaconu, Gerhard Aumüller, Gunther Wennemuth, Iris Schwandt, Kenneth Kleene, Hartmut Kuehn, Wolfgang Engel

Journal:

Molecular Reproduction and Development

Année:

2004

Langue:

english

Fichier:

PDF, 348 KB

english, 2004

4

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor,

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 356 KB

english, 2012

5

[Lecture Notes in Computer Science] Graph Grammars and Their Application to Computer Science Volume 1073 || Graph automata for linear graph languages

Cuny, Janice, Ehrig, Hartmut, Engels, Gregor, Rozenberg, Grzegorz

Année:

1996

Langue:

english

Fichier:

PDF, 926 KB

english, 1996

6

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 439 KB

english, 2014

7

Model synchronization based on triple graph grammars: correctness, completeness and invertibility

Hermann, Frank, Ehrig, Hartmut, Orejas, Fernando, Czarnecki, Krzysztof, Diskin, Zinovy, Xiong, Yingfei, Gottmann, Susann, Engel, Thomas

Journal:

Software & Systems Modeling

Année:

2015

Langue:

english

Fichier:

PDF, 6.07 MB

english, 2015

8

[Lecture Notes in Computer Science] Theory and Application of Graph Transformations Volume 1764 || Utilizing Constraint Satisfaction Techniques for Efficient Graph Pattern Matching

Ehrig, Hartmut, Engels, Gregor, Kreowski, Hans-Jörg, Rozenberg, Grzegorz

Année:

2000

Langue:

english

Fichier:

PDF, 244 KB

english, 2000

9

Congenital diaphragmatic hernia in a case of Cat eye syndrome

Alsat, Ebru Aileen, Reutter, Heiko, Bagci, Soyhan, Kipfmueller, Florian, Engels, Hartmut, Raff, Ruth, Mangold, Elisabeth, Gembruch, Ulrich, Geipel, Annegret, Müller, Andreas, Schaible, Thomas

Journal:

Clinical Case Reports

Année:

2018

Langue:

english

Fichier:

PDF, 532 KB

english, 2018

10

Identification of supernumerary der(20) chromosomes by FISH in three patients

Viersbach, Renate, Engels, Hartmut, Schwanitz, Gesa

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 195 KB

english, 1997

11

Delineation of supernumerary marker chromosomes in 38 patients

Viersbach, Renate, Engels, Hartmut, Gamerdinger, Ulrike, Hansmann, Manfred

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 52 KB

english, 1998

12

Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome

K�nig, Arne, Happle, Rudolf, Bornholdt, Dorothea, Engel, Hartmut, Grzeschik, Karl-Heinz

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 537 KB

english, 2000

13

Structured interview for anorexia and bulimia nervosa (SIAB): Development of a new instrument for the assessment of eating disorders

Manfred M. Fichter, Martin Elton, Klaus Engel, Adolf-Ernst Meyer, Hartmut Mall, Fritz Poustka

Journal:

Journal of Eating Disorders

Année:

1991

Langue:

english

Fichier:

PDF, 1.14 MB

english, 1991

14

Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome

Dagmar von Bubnoff, Martina Kreiß-Nachtsheim, Natalija Novak, Eva Engels, Hartmut Engels, Claudia Behrend, Peter Propping, Henri de la Salle, Thomas Bieber

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 167 KB

english, 2004

15

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, Vera Kalscheuer, Peter Propping, Gesa Schwanitz, Beate Albrecht, Hartmut Engels

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 126 KB

english, 2005

16

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Hartmut Engels, Thomas Eggermann, Almut Caliebe, Anna Jelska, Regine Schubert, Herdit M. Schüler, Barbara Panasiuk, Jacek Zaremba, Anna Latos-Bieleńska, Lucjusz Jakubowski, Klaus P. Zerres, Gesa Schwa

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 78 KB

english, 2008

17

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

Alma Kuechler, Karen Buysse, Jill Clayton-Smith, Cédric Le Caignec, Albert David, Hartmut Engels, Jürgen Kohlhase, Francesca Mari, Geert Mortier, Alessandra Renieri, Dagmar Wieczorek

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2011

18

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg, A. Micheil Innes, Kerstin Engel, Susan Hunger, Wiktor Borozdin, Jean K. Mah, Kristina Ungerath, Hartmut Walkenhorst, Hans-Helmut Richardt, Joha

Journal:

Arthritis & Rheumatism

Année:

2010

Langue:

english

Fichier:

PDF, 139 KB

english, 2010

19

A MAS NMR Study of the Bacterial ABC Transporter ArtMP

Vivien Lange, Johanna Becker-Baldus, Britta Kunert, Barth-Jan van Rossum, Fabio Casagrande, Andreas Engel, Yvette Roske, Frank M. Scheffel, Erwin Schneider, Hartmut Oschkinat

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2010

20

1-Phenyl-1,2-cyclohexadiene: Astoundingly High Enantioselectivities on Generation in a Doering–Moore–Skattebøl Reaction and Interception by Activated Olefins

Manfred Christl, Hartmut Fischer, Mario Arnone, Bernd Engels

Journal:

Chemistry - A European Journal

Année:

2009

Langue:

english

Fichier:

PDF, 334 KB

english, 2009

21

The K2nCoMo2+nO7+4n Family of Structures, with n = 2, 3 or 5.

Jens M. Engel, Helmut Ehrenberg, Hartmut Fuess

Journal:

Année:

2006

Fichier:

PDF, 9 KB

2006

22

4- and 4,5-Substituted N-Methoxythiazole-2(3H)-thiones – Preparation,UV/Vis Spectra, and Assignment of Electronic Transitions in Comparison to N-Methoxypyridine-2(1H)-thione Using Time-Dependent Density Functional Theory Calculations

Jens Hartung, Kristina Špehar, Ingrid Svoboda, Hartmut Fuess, Mario Arnone, Bernd Engels

Journal:

European Journal of Organic Chemistry

Année:

2005

Langue:

english

Fichier:

PDF, 357 KB

english, 2005

23

The Stereochemical Course of the Generation and Interception of aSix-Membered Cyclic Allene: 3δ2-1H-Naphthalene (2,3-Didehydro-1,2-dihydronaphthalene)

Manfred Christl, Martin Braun, Hartmut Fischer, Stefan Groetsch, Germar Müller, Dirk Leusser, Stephan Deuerlein, Dietmar Stalke, Mario Arnone, Bernd Engels

Journal:

European Journal of Organic Chemistry

Année:

2006

Langue:

english

Fichier:

PDF, 261 KB

english, 2006

24

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Markus Zweier, Anne Gregor, Christiane Zweier, Hartmut Engels, Heinrich Sticht, Eva Wohlleber, Emilia K. Bijlsma, Susan E. Holder, Martin Zenker, Eva Rossier, Ute Grasshoff, Diana S. Johnson, Lisa Rob

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 612 KB

english, 2010

25

Foreword

Hartmut Ehrig, Gregor Engels, Hans-Jörg Kreowski, Gabriele Taentzer

Journal:

Science of Computer Programming

Année:

2002

Langue:

english

Fichier:

PDF, 34 KB

english, 2002

26

Expanding the clinical spectrum associated with defects inCNTNAP2andNRXN1

Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K Bijlsma, Arif B Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, E

Journal:

BMC Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 531 KB

english, 2011

27

Untersuchungen an Metallkatalysatoren

Siegfried Engels, Hartmut Lausch, Jürgen Schulze

Journal:

Zeitschrift für Chemie

Année:

1984

Langue:

german

Fichier:

PDF, 292 KB

german, 1984

28

Festkörperreaktionen in Katalysatoren und Katalysatorkomponenten;) Zum Reduktionsverhalten von Pt-Re-Cr/γ-Al2O3-Katalysatoren

Peter Birke, Siegfried Engels, Hartmut Lausch, Lutz Peitzsch

Journal:

Zeitschrift für Chemie

Année:

1985

Langue:

german

Fichier:

PDF, 277 KB

german, 1985

29

Einfluß einer Fluoridmodifizierung auf die aciden und texturellen Eigenschaften von γ-Al2O3

Siegfried Engels, Hartmut Lausch, Hans-Werner Meiners

Journal:

Zeitschrift für Chemie

Année:

1989

Langue:

german

Fichier:

PDF, 252 KB

german, 1989

30

The neurobeachin gene (Nbea) identifies a new region of homology between mouse central Chromosome 3 and human Chromosome 13q13

Debra J. Gilbert, Hartmut Engel, Xiaolu Wang, Karl-Heinz Grzeschik, Neal G. Copeland, Nancy A. Jenkins, Manfred W. Kilimann

Journal:

Mammalian Genome

Année:

1999

Langue:

english

Fichier:

PDF, 93 KB

english, 1999

31

Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18

T. Eggermann, Hartmut Engels, Christiane Heidrich-Kaul, Inge Moderau, Gesa Schwanitz

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 62 KB

english, 1997

32

The structures of the human neuronal nicotinic acetylcholine receptor β2- and α3-subunit genes (CHRNB2andCHRNA3)

Nicole Rempel, Sibilla Heyers, Hartmut Engels, E. Sleegers, O. K. Steinlein

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 257 KB

english, 1998

33

Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization

Heiko Reutter, Alexander Hoischen, Michael Ludwig, Raimund Stein, Bernhard Radlwimmer, Hartmut Engels, Katja P. Wolffenbuttel, Ruthild G. Weber

Journal:

BJU International

Année:

2007

Langue:

english

Fichier:

PDF, 201 KB

english, 2007

34

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

Engels, Hartmut, Wohlleber, Eva, Zink, Alexander, Hoyer, Juliane, Ludwig, Kerstin U, Brockschmidt, Felix F, Wieczorek, Dagmar, Moog, Ute, Hellmann-Mersch, Birgit, Weber, Ruthild G

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 452 KB

english, 2009

35

Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation

Engels, Hartmut, Ehrbrecht, Antje, Zahn, Susanne, Bosse, Kristin, Vrolijk, Hans, White, Stefan, Kalscheuer, Vera, Hoovers, Jan M N, Schwanitz, Gesa, Propping, Peter

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 199 KB

english, 2003

36

Genes for human general transcription initiation factors TFIIIB, TFIIIB-associated proteins, TFIIIC2 and PTF/SNAPC: functional and positional candidates for tumour predisposition or inherited genetic diseases?

Hsieh, Yng-ju, Teichman, Martin, Wang, Zhengxin, Purrello, Michele, Di Pietro, Cinzia, Rapisarda, Antonella, Amico, Valentina, Giunta, Veronica, Engel, Hartmut, Stevens, Sean

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 261 KB

english, 2001

37

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation

Raedle, Jochen, Friedl, Waltraut, Engels, Hartmut, Koenig, Rainer, Trojan, Joerg, Zeuzem, Stefan

Journal:

American Journal of Gastroenterology

Année:

2001

Langue:

english

Fichier:

PDF, 102 KB

english, 2001

38

A phenotype map for 14q32.3 terminal deletions

Hartmut Engels, Herdit M. Schüler, Alexander M. Zink, Eva Wohlleber, Antje Brockschmidt, Alexander Hoischen, Matthias Drechsler, Jennifer A. Lee, Kerstin U. Ludwig, Christian Kubisch, Gesa Schwanitz,

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 810 KB

english, 2012

39

Weibchen-spezifische Haemolymph-Proteine bei Gynandern vonApis mellifica

Wolf Engels, Hartmut Fahrenhorst, Wilhelm Drescher, Kristina Möbius

Journal:

Development Genes and Evolution

Année:

1975

Fichier:

PDF, 634 KB

1975

40

Nucleotide sequences and expression of cDNA clones for boar and bull transition protein 1 and its evolutionary conservation in mammals

Hannelore Kremling, Hartmut Luerssen, Ibrahim M. Adham, Uwe Klemm, Sofia Tsaousidou, Wolfgang Engel

Journal:

Differentiation

Année:

1989

Langue:

english

Fichier:

PDF, 795 KB

english, 1989

41

Isolation and Structural Characterization of Trimeric Cyanobacterial Photosystem I Complex with the Help of Recombinant Antibody Fragments

Georgios Tsiotis, Winfried Haase, Andreas Engel, Hartmut Michel

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 952 KB

english, 1995

42

Partial Gene Structure and Assignment to Chromosome 2q37 of the Human Inwardly Rectifying K+Channel (Kir7.1) Gene (KCNJ13)

Christian Derst, Frank Döring, Regina Preisig-Müller, Jürgen Daut, Andreas Karschin, Nikola Jeck, Stefanie Weber, Hartmut Engel, Karl-Heinz Grzeschik

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 129 KB

english, 1998

43

First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization

Ulrike Gamerdinger, Kristin Bosse, Thomas Eggermann, Vera Kalscheuer, Gesa Schwanitz, Hartmut Engels

Journal:

European Journal of Medical Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 261 KB

english, 2006

44

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema

Ulrich Zechner, Nicolai Kohlschmidt, Olga Kempf, Konstanze Gebauer, Karsten Haug, Hartmut Engels, Thomas Haaf, Oliver Bartsch

Journal:

European Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 292 KB

english, 2009

45

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

Eva Wohlleber, Maria Kirchhoff, Alexander M. Zink, Martina Kreiß-Nachtsheim, Alma Küchler, Birgit Jepsen, Susanne Kjaergaard, Hartmut Engels

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 711 KB

english, 2011

46

Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3

Walter Lisch, Andreas Büttner, Frank Oeffner, Inke Böddeker, Hartmut Engel, Christina Lisch, Andreas Ziegler, Karl-Heinz Grzeschik

Journal:

American Journal of Ophthalmology

Année:

2000

Langue:

english

Fichier:

PDF, 643 KB

english, 2000

47

Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits

Christian Derst, Christine Karschin, Erhard Wischmeyer, Jochen R. Hirsch, Regina Preisig-Müller, Sindhu Rajan, Hartmut Engel, Karl-Heinz Grzeschik, Jürgen Daut, Andreas Karschin

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 463 KB

english, 2001

48

Description and evaluation of a sampling system for long-time monitoring of PAHs wet deposition

Francisco Cereceda-Balic, Einhard Kleist, Hartmut Prast, Heide Schlimper, Herbert Engel, Klaus Günther

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 214 KB

english, 2002

49

The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

Uppala Radhakrishna, Dorothea Bornholdt, Hamish S. Scott, Uday C. Patel, Colette Rossier, Hartmut Engel, Armand Bottani, Divya Chandal, Jean-Louis Blouin, Jitendra V. Solanki, Karl-Heinz Grzeschik, St

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1999

50

[Lecture Notes in Computer Science] Graph Transformations Volume 7562 || Refined Graph Rewriting in Span-Categories

Ehrig, Hartmut, Engels, Gregor, Kreowski, Hans-Jörg, Rozenberg, Grzegorz

Année:

2012

Langue:

english

Fichier:

PDF, 468 KB

english, 2012