P. Wodling: search on Z-Library

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1

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novelPRPS1mutation

Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André BP, de Brouwer, Arjan PM, Schöls, Ludg

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 447 KB

english, 2014

2

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Elgün, Saskia, Waibel, Jakob, Kehrer, Christiane, van Rappard, Diane, Böhringer, Judith, Beck-Wödl, Stefanie, Just, Jennifer, Schöls, Ludger, Wolf, Nicole, Krägeloh-Mann, Ingeborg, Groeschel, Samuel

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 1.57 MB

2019

3

Laser ablation tests performed on TORE-SUPRA graphite samples

F. Le Guern, C. Hubert, S. Mousset, E. Gauthier, C. Blanc, P. Wodling, J.M. Weulersse

Journal:

Journal of Nuclear Materials

Year:

2004

Language:

english

File:

PDF, 608 KB

english, 2004

4

First improvements in the detection and quantification of label-free nucleic acids by laser-induced breakdown spectroscopy: Application to the deoxyribonucleic acid micro-array technology

Julien Le Meur, Denis Menut, Pascal Wodling, Laurent Salmon, Pierre-Yves Thro, Sylvie Chevillard, Nicolas Ugolin

Journal:

Spectrochimica Acta Part B: Atomic Spectroscopy

Year:

2008

Language:

english

File:

PDF, 1.19 MB

english, 2008

5

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:

Year:

2009

Language:

english

File:

PDF, 303 KB

english, 2009

6

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

Schicks, J., Muller vom Hagen, J., Bauer, P., Beck-Wodl, S., Biskup, S., Krageloh-Mann, I., Schols, L., Synofzik, M.

Journal:

Year:

2013

Language:

english

File:

PDF, 182 KB

english, 2013

7

Eine 63-jährige Patientin mit Bronchiektasen altersuntypischer Ätiologie

Dr. S. Heyder,S. Beck-Wödl,M. Kohlhäufl

Journal:

Year:

2014

Language:

german

File:

PDF, 335 KB

german, 2014

8

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H /SPG35 in 4 families

Soehn, Anne S., Rattay, Tim W., Beck-Wödl, Stefanie, Schäferhoff, Karin, Monk, David, Döbler-Neumann, Marion, Hörtnagel, Konstanze, Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Züchner, Stephan,

Journal:

Year:

2016

Language:

english

File:

PDF, 818 KB

english, 2016

9

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro

Krägeloh-Mann, Inge, Harzer, Klaus, Rostásy, Kevin, Beck-Wödl, Stefanie, Bornemann, Antje, Böhringer, Judith, Bevot, Andrea, Beck, Verena, Merkel, Gisela, Pechan, Maria

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.24 MB

english, 2017

10

Truxal in psychiatrischem Krankenhaus und ambulanter Nachbehandlung

Flegel, H., Harling, H.O., Wödl, H.

Journal:

European Neurology

Year:

1961

Language:

german

File:

PDF, 590 KB

german, 1961

11

Skewed X-inactivation in a family with DLG3- associated X-linked intellectual disability

Gieldon, Laura, Mackenroth, Luisa, Betcheva-Krajcir, Elitza, Rump, Andreas, Beck-Wödl, Stefanie, Schallner, Jens, Di Donato, Nataliya, Schröck, Evelin, Tzschach, Andreas

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 617 KB

english, 2017

12

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

van der Sluijs, Eline, Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K.

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 499 KB

english, 2018

13

Distinct Niemann-Pick Disease Type C Clinical, Cytological, and Biochemical Phenotype in an Adult Patient With 1 Mutated, Overexpressed NPC1 Allele

Jecel, Julia, Harzer, Klaus, Paschke, Eduard, Beck-Wödl, Stefanie, Bauer, Peter, Hejtman, Milos, Katzenschlager, Regina

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2015

Language:

english

File:

PDF, 740 KB

english, 2015

14

Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue

Harzer, Klaus, Yildiz, Yildiz, Beck-Wödl, Stefanie

Journal:

Biological Chemistry

Year:

2018

Language:

english

File:

PDF, 810 KB

english, 2018

15

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck-Wödl, Stefanie, Harzer, Klaus, Sturm, Marc, Buchert, Rebecca, Rieß, Olaf, Mennel, Hans-Dieter, Latta, Elisabeth, Pagenstecher, Axel, Keber, Ursula

Journal:

Acta Neuropathologica Communications

Year:

2018

Language:

english

File:

PDF, 3.94 MB

english, 2018

16

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emi

Journal:

Genetics in Medicine

Year:

2019

Language:

english

File:

PDF, 192 KB

english, 2019