Nitschke, Christine : rechercher sur Z-Library

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1

Investigations on the impact and fracture toughness of beam welded structural steels with yield strengths from 355 to 960 MPa

Hesse, Ann-Christin, Nitschke-Pagel, Thomas, Dilger, Klaus

Journal:

Welding in the World

Année:

2018

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2018

2

Durable surface modification of poly(tetrafluoroethylene) by low pressure H2O plasma treatment followed by acrylic acid graft polymerization

Ulla König, Mirko Nitschke, Anke Menning, Grit Eberth, Martin Pilz, Christine Arnhold, Frank Simon, Gudrun Adam, Carsten Werner

Journal:

Colloids and Surfaces B: Biointerfaces

Année:

2002

Langue:

english

Fichier:

PDF, 370 KB

english, 2002

3

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

Megahed, Hisham, Nicouleau, Michaël, Barcia, Giulia, Medina-Cano, Daniel, Siquier-Pernet, Karine, Bole-Feysot, Christine, Parisot, Mélanie, Masson, Cécile, Nitschké, Patrick, Rio, Marlène, Bahi-Buisso

Journal:

Orphanet Journal of Rare Diseases

Année:

2016

Langue:

english

Fichier:

PDF, 2.38 MB

english, 2016

4

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations

Stoupa, Athanasia, Chaabane, Rim, Guériouz, Manelle, Raynaud-Ravni, Catherine, Nitschke, Patrick, Bole-Feyset, Christine, Mnif, Mouna, Ammar Keskes, Leila, Hachicha, Mongia, Belguith, Neila, Polak, Mi

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 694 KB

english, 2018

5

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders

Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Cagnard, Nicolas, Iyer, Anand, Anink, Jasper, Aronica, Eleonora, Alibeu, Olivier, Nitschke, Patrick, Colleaux, Laurence

Journal:

Molecular Autism

Année:

2018

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2018

6

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction

Cavallin, Mara, Bery, Amandine, Maillard, Camille, Salomon, Laurent J., Bole, Christine, Reilly, Madeline Louise, Nitschké, Patrick, Boddaert, Nathalie, Bahi-Buisson, Nadia

Journal:

European Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.98 MB

english, 2018

7

Investigations on the Fracture Toughness of Electron Beam Welded Steels

Hesse, Ann Christin, Nitschke-Pagel, Thomas, Dilger, Klaus

Journal:

Key Engineering Materials

Année:

2016

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2016

8

Investigations on the fatigue strength of beam-welded butt joints taking the weld quality into account

Hesse, Ann-Christin, Hensel, Jonas, Nitschke-Pagel, Thomas, Dilger, Klaus

Journal:

Welding in the World

Année:

2019

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2019

9

A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia

Duchatelet, Sabine, Russo, Claudia, Osterburg, Christian, Mallet, Stéphanie, Bole-Feysot, Christine, Nitschké, Patrick, Richard, Marie-Aleth, Dötsch, Volker, Missero, Caterina, Nassif, Aude, Hovnanian

Journal:

The Journal of Investigative Dermatology

Année:

2019

Langue:

english

Fichier:

PDF, 41.70 MB

english, 2019

10

Impact of intermittent energy restriction on anthropometric outcomes and intermediate disease markers in patients with overweight and obesity: systematic review and meta-analyses

Schwingshackl, Lukas, ZÃ¤hringer, Jasmin, Nitschke, Kai, Torbahn, Gabriel, Lohner, Szimonetta, KÃ¼hn, Tilman, Fontana, Luigi, Veronese, Nicola, Schmucker, Christine, Meerpohl, Joerg J

Journal:

Critical Reviews in Food Science and Nutrition

Année:

2020

Fichier:

PDF, 1.39 MB

2020

11

Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation

Norman Kock, Meike Kasten, Birgitt Schüle, Katja Hedrich, Karin Wiegers, Kemal Kabakci, Johann Hagenah, Peter P. Pramstaller, Matthias F. Nitschke, Alexander Münchau, Jürgen Sperner, Christine Klein

Journal:

Movement Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 542 KB

english, 2004

12

Voluntary palatal tremor is associated with hyperactivation of the inferior olive: A functional magnetic resonance imaging study

Matthias F. Nitschke, Gunnar Krüger, Harald Bruhn, Christine Klein, Eckart Gehrking, Karl Wessel, Jens Frahm, Peter Vieregge

Journal:

Movement Disorders

Année:

2001

Langue:

english

Fichier:

PDF, 1018 KB

english, 2001

13

Stability and ageing of plasma treated poly(tetrafluoroethylene) surfaces

Ulla König, Mirko Nitschke, Martin Pilz, Frank Simon, Christine Arnhold, Carsten Werner

Journal:

Colloids and Surfaces B: Biointerfaces

Année:

2002

Langue:

english

Fichier:

PDF, 579 KB

english, 2002

14

Startle potentiation in aversive anticipation: Evidence for state but not trait effects

Jack B. Nitschke, Christine L. Larson, Marian J. Smoller, Sarah D. Navin, Adrian J.C. Pederson, Dante Ruffalo, Kristen L. Mackiewicz, Shannon M. Gray, Elise Victor, Richard J. Davidson

Journal:

Psychophysiology

Année:

2002

Langue:

english

Fichier:

PDF, 116 KB

english, 2002

15

EPR studies of the terminal electron acceptors of the green sulfur bacterial reaction centre. Revisited

Christine Hager-Braun, Ursula Jarosch, Günter Hauska, Wolfgang Nitschke, Astrid Riedel

Journal:

Photosynthesis Research

Année:

1997

Langue:

english

Fichier:

PDF, 340 KB

english, 1997

16

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Col

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 483 KB

english, 2009

17

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, Alexander Hoischen, Damien Brackman, Sabine M. Leh, Marit Midtbø, Emilie Filhol, Christine Bole-Feysot, Patrick Nitschké, Christi

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 822 KB

english, 2011

18

Characterisation of a Soluble Cytochrome c4 Isolated from Thiobacillus ferrooxidans

Christine Cavazza, Marie-Thérèse Giudici-Orticoni, Wolfgang Nitschke, Corinne Appia, Violaine Bonnefoy, Mireille Bruschi

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 807 KB

english, 1996

19

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

Hila Barak, Sung-Ho Huh, Shuang Chen, Cécile Jeanpierre, Jelena Martinovic, Mélanie Parisot, Christine Bole-Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan

Journal:

Developmental Cell

Année:

2012

Langue:

english

Fichier:

PDF, 4.44 MB

english, 2012

20

Brain electrical tomography in depression: the importance of symptom severity, anxiety, and melancholic features

Diego A Pizzagalli, Jack B Nitschke, Terrence R Oakes, Andrew M Hendrick, Kathryn A Horras, Christine L Larson, Heather C Abercrombie, Stacey M Schaefer, John V Koger, Ruth M Benca, Roberto D Pascual-

Journal:

Biological Psychiatry

Année:

2002

Langue:

english

Fichier:

PDF, 327 KB

english, 2002

21

XYLT1 Mutations in Desbuquois Dysplasia Type 2

Bui, Catherine, Huber, Céline, Tuysuz, Beyhan, Alanay, Yasemin, Bole-Feysot, Christine, Leroy, Jules G., Mortier, Geert, Nitschke, Patrick, Munnich, Arnold, Cormier-Daire, Valérie

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 939 KB

english, 2014

22

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Huber, Céline, Faqeih, Eissa Ali, Bartholdi, Deborah, Bole-Feysot, Christine, Borochowitz, Zvi, Cavalcanti, Denise P., Frigo, Amandine, Nitschke, Patrick, Roume, Joelle, Santos, Heloísa G., Shalev, St

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 310 KB

english, 2013

23

A New TRPV3 Missense Mutation in a Patient With Olmsted Syndrome and Erythromelalgia

Duchatelet, Sabine, Pruvost, Solenn, de Veer, Simon, Fraitag, Sylvie, Nitschké, Patrick, Bole-Feysot, Christine, Bodemer, Christine, Hovnanian, Alain

Journal:

JAMA Dermatology

Année:

2014

Langue:

english

Fichier:

PDF, 408 KB

english, 2014

24

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Delphin, Nathalie, Hanein, Sylvain, Taie, Lucas Fares, Zanlonghi, Xavier, Bonneau, Dominique, Moisan, Jean-Paul, Boyle, Christine, Nitschke, Patrick, Pruvost, Solenn, Bonnefont, Jean-Paul, Munnich, Ar

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 325 KB

english, 2012

25

Anterior Cingulate Activity as a Predictor of Degree of Treatment Response in Major Depression: Evidence From Brain Electrical Tomography Analysis

Pizzagalli, Diego, Pascual-Marqui, Roberto D., Nitschke, Jack B., Oakes, Terrence R., Larson, Christine L., Abercrombie, Heather C., Schaefer, Stacey M., Koger, John V., Benca, Ruth M., Davidson, Rich

Journal:

American Journal of Psychiatry

Année:

2001

Langue:

english

Fichier:

PDF, 260 KB

english, 2001

26

Grip Strength and Dexterity in Adults with Developmental Delays

Transon, Carol S., Nitschke, Christine K., McPherson, James J., Spaulding, Sandi J., Rukamp, Gail A., Anderson, Lisa, Hecht, Patricia

Journal:

Occupational Therapy in Health Care

Année:

1989

Langue:

english

Fichier:

PDF, 537 KB

english, 1989

27

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Mircsof, Dennis, Langouët, Maéva, Rio, Marlène, Moutton, Sébastien, Siquier-Pernet, Karine, Bole-Feysot, Christine, Cagnard, Nicolas, Nitschke, Patrick, Gaspar, Ludmila, Žnidarič, Matej, Alibeu, Olivi

Journal:

Nature Neuroscience

Année:

2015

Langue:

english

Fichier:

PDF, 3.05 MB

english, 2015

28

Contiguous mutation syndrome in the era of high-throughput sequencing

Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M. S., Barouki, Robert, Amiel, Jeanne, Colleau

Journal:

Molecular Genetics & Genomic Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 650 KB

english, 2015

29

Du séquençage haut débit au phénotype : intérêt majeur de l’examen fœtopathologique dans l’exploration des anomalies du corps calleux

Attie-Bitach, Tania, Alby, Caroline, Boutaud, Lucile, Malan, Valérie, Bahi-Buisson, Nadia, Ichkou, Amale, Ville, Yves, Bole-Feysot, Christine, Nitschke, Patrick, Thomas, Sophie, Razavi, Ferechté, Veke

Journal:

Année:

2015

Langue:

french

Fichier:

PDF, 136 KB

french, 2015

30

Refining the phenotype associated with CASC5 mutation

Saadi, Abdelkrim, Verny, Florine, Siquier-Pernet, Karine, Bole-Feysot, Christine, Nitschke, Patrick, Munnich, Arnold, Abada-Dendib, Myriam, Chaouch, Malika, Abramowicz, Marc, Colleaux, Laurence

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 527 KB

english, 2016

31

RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability

Thevenon, Julien, Michot, Caroline, Bole, Christine, Nitschke, Patrick, Nizon, Mathilde, Faivre, Laurence, Munnich, Arnold, Lyonnet, Stanislas, Bonnefont, Jean-Paul, Portes, Vincent Des, Amiel, Jeanne

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 400 KB

english, 2015

32

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Guimier, Anne, Gordon, Christopher T., Godard, François, Ravenscroft, Gianina, Oufadem, Myriam, Vasnier, Christelle, Rambaud, Caroline, Nitschke, Patrick, Bole-Feysot, Christine, Masson, Cécile, Dauge

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2016

33

Common and distinct patterns of affective response in dimensions of anxiety and depression.

Larson, Christine L., Nitschke, Jack B., Davidson, Richard J.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 357 KB

english, 2007

34

Fracture Toughness of Electron Beam Welded Fine Grain Steels

Hesse, Ann-Christin, Nitschke-Pagel, Thomas, Dilger, Klaus

Journal:

Procedia Structural Integrity

Année:

2016

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2016

35

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

Ranza, Emmanuelle, Huber, Céline, Levin, Nicolas, Baujat, Geneviève, Bole-Feysot, Christine, Nitschke, Patrick, Masson, Cécile, Alanay, Yasemin, Al-Gazali, Lihadh, Bitoun, Pierre, Boute, Odile, Campea

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2016

36

A human immunodeficiency caused by mutations in the PIK3R1 gene

Deau, Marie-Céline, Heurtier, Lucie, Frange, Pierre, Suarez, Felipe, Bole-Feysot, Christine, Nitschke, Patrick, Cavazzana, Marina, Picard, Capucine, Durandy, Anne, Fischer, Alain, Kracker, Sven

Journal:

Journal of Clinical Investigation

Année:

2014

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2014

37

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

McInerney-Leo, Aideen M, Le Goff, Carine, Leo, Paul J, Kenna, Tony J, Keith, Patricia, Harris, Jessica E, Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matthew A, Zankl,

Journal:

Journal of Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.51 MB

english, 2016

38

Oral Health and nutritional status in nursing home residents—results of an explorative cross-sectional pilot study

Ziebolz, Dirk, Werner, Christine, Schmalz, Gerhard, Nitschke, Ina, Haak, Rainer, Mausberg, Rainer F., Chenot, Jean-François

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 444 KB

english, 2017

39

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores,

Journal:

Journal of the American Society of Nephrology

Année:

2017

Fichier:

PDF, 860 KB

2017

40

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick,

Journal:

Nature Communications

Année:

2017

Langue:

english

Fichier:

PDF, 4.38 MB

english, 2017

41

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

Cavallin, Mara, Rujano, Maria A., Bednarek, Nathalie, Medina-Cano, Daniel, Bernabe Gelot, Antoinette, Drunat, Severine, Maillard, Camille, Garfa-Traore, Meriem, Bole, Christine, Nitschké, Patrick, Ben

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2017

42

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patri

Journal:

The American Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 2.43 MB

english, 2017

43

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence

Gordon, Christopher T., Chopra, Maya, Oufadem, Myriam, Alibeu, Olivier, Bras, Marc, Boddaert, Nathalie, Bole-Feysot, Christine, Nitschké, Patrick, Abadie, Véronique, Lyonnet, Stanislas, Amiel, Jeanne

Journal:

American Journal of Medical Genetics Part A

Année:

2017

Langue:

english

Fichier:

PDF, 824 KB

english, 2017

44

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies

Ryan, Rebecca, Failler, Marion, Reilly, Madeline Louise, Garfa-Traore, Meriem, Delous, Marion, Filhol, Emilie, Reboul, Thérèse, Bole-Feysot, Christine, Nitschké, Patrick, Baudouin, Véronique, Amselem,

Journal:

Human Molecular Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2018

45

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

Drecourt, Anthony, Babdor, Joël, Dussiot, Michael, Petit, Floriane, Goudin, Nicolas, Garfa-Traoré, Meriem, Habarou, Florence, Bole-Feysot, Christine, Nitschké, Patrick, Ottolenghi, Chris, Metodiev, Me

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 2.29 MB

english, 2018

46

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Lauren

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2018

47

Rôle de miR-146a dans la différenciation et l’acquisition de l’identité neurale des cellules souches humaines : pertinence pour les troubles du spectre autistique

Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Nitschke, Patrick, Pelle, Oliver, Colleaux, Laurence

Journal:

Année:

2017

Langue:

french

Fichier:

PDF, 54 KB

french, 2017

48

If you can’t measure it- you can’t change it – a longitudinal study on improving quality of care in hospitals and health centers in rural Kenya

Marx, Michael, Nitschke, Christine, Nafula, Maureen, Nangami, Mabel, Brodowski, Marc, Marx, Irmgard, Prytherch, Helen, Kandie, Charles, Omogi, Irene, Paul-Fariborz, Friederike, Szecsenyi, Joachim

Journal:

BMC Health Services Research

Année:

2018

Langue:

english

Fichier:

PDF, 3.37 MB

english, 2018

49

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédi

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 445 KB

english, 2018

50

Mutations in PERP Cause Dominant and Recessive Keratoderma

Duchatelet, Sabine, Boyden, Lynn M., Ishida-Yamamoto, Akemi, Zhou, Jing, Guibbal, Laure, Hu, Ronghua, Lim, Young H., Bole-Feysot, Christine, Nitschké, Patrick, Santos-Simarro, Fernando, de Lucas, Raul

Journal:

The Journal of Investigative Dermatology

Année:

2018

Langue:

english

Fichier:

PDF, 4.03 MB

english, 2018