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1

DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome

E Ciara, MJM Nowaczyk, M Witsch-Baumgartner, E Malunowicz, E Popowska, A Jezela-Stanek, M Piotrowicz, JS Waye, G Utermann, M Krajewska-Walasek

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 103 KB

english, 2004

2

Mutations in the human DHCR7 gene

Martina Witsch-Baumgartner, Judith Löffler, Gerd Utermann

Journal:

Year:

2001

Language:

english

File:

PDF, 356 KB

english, 2001

3

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miett

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 313 KB

english, 2007

4

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

Witsch-Baumgartner, Martina, Sawyer, Hilary, Haas, Dorothea

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 193 KB

english, 2013

5

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.12 MB

2020

6

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder

Martina Witsch-Baumgartner, Judith Loeffler, Hans-Jürgen Menzel, Gerd Utermann, Cordula Neuhaus

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

7

Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck

Ilona Schwentner, Martina Witsch-Baumgartner, Georg M. Sprinzl, Jens Krugmann, Alexandar Tzankov, Siegfried Jank, Heinz Zwierzina, Judith Loeffler-Ragg

Journal:

Year:

2008

Language:

english

File:

PDF, 353 KB

english, 2008

8

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

M. Witsch-Baumgartner, P. Clayton, N. Clusellas, D. Haas, R.I. Kelley, M. Krajewska-Walasek, S. Lechner, M. Rossi, J. Zschocke, G. Utermann

Journal:

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

9

Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient

Judith Loeffler, Gerd Utermann, Martina Witsch-Baumgartner

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 64 KB

english, 2002

10

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

Witsch-Baumgartner, M, Ciara, E, Löffler, J, Menzel, H J, Seedorf, U, Burn, J, Gillessen-Kaesbach, G, Hoffmann, G F, Fitzky, B U, Mundy, H

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

11

High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

S Kalb, AO Caglayan, A Degerliyurt, S Schmid, S Ceylaner, N Hatipoglu, K Hinderhofer, H Rehder, S Kurtoglu, G Ceylaner, J Zschocke, M Witsch-Baumgartner

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 611 KB

english, 2012

12

Gefitinib-responsive EGFR-positive colorectal cancers have different proteome profiles from non-responsive cell lines

Judith Loeffler-Ragg, Sergej Skvortsov, Bettina Sarg, Ira Skvortsova, Martina Witsch-Baumgartner, Doris Mueller, Herbert Lindner, Heinz Zwierzina

Journal:

European Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

13

Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma

Judith Loeffler-Ragg, Martina Witsch-Baumgartner, Alexandar Tzankov, Wolgang Hilbe, Ilona Schwentner, Georg M. Sprinzl, Gerd Utermann, Heinz Zwierzina

Journal:

European Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 137 KB

english, 2006

14

Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

M. Witsch-Baumgartner, B.U. Fitzky, M. Ogorelkova, H.G. Kraft, F.F. Moebius, H. Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G.F. Hoffmann, P. Clayton, R.I. Kelley, G. Utermann

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 646 KB

english, 2000

15

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome

Frühmesser, Anne, Vogt, Peter H., Zimmer, Jutta, Witsch-Baumgartner, Martina, Fauth, Christine, Zschocke, Johannes, Pinggera, Germar-Michael, Kotzot, Dieter

Journal:

Fertility and Sterility

Year:

2013

Language:

english

File:

PDF, 665 KB

english, 2013

16

Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)

Skvortsov, S, Dudás, J, Eichberger, P, Witsch-Baumgartner, M, Loeffler-Ragg, J, Pritz, C, Schartinger, V H, Maier, H, Hall, J, Debbage, P, Riechelmann, H, Lukas, P, Skvortsova, I

Journal:

British Journal of Cancer

Year:

2014

Language:

english

File:

PDF, 1.55 MB

english, 2014

17

Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome

Barbara U. Fitzky, Martina Witsch-Baumgartner, Martin Erdel, Joon No Lee, Young-Ki Paik, Hartmut Glossmann, Gerd Utermann and Fabian F. Moebius

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.94 MB

english, 1998

18

Genotype-based databases for variants causing rare diseases

Lanthaler, Barbara, Wieser, Stefanie, Deutschmann, Andrea, Schossig, Anna, Fauth, Christine, Zschocke, Johannes, Witsch-Baumgartner, Martina

Journal:

Year:

2014

Language:

english

File:

PDF, 219 KB

english, 2014

19

Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome

Witsch-Baumgartner, Martina, Lanthaler, Barbara

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

20

Characterization of large deletions in the DHCR7 gene

Lanthaler, B., Hinderhofer, K., Maas, B., Haas, D., Sawyer, H., Burton-Jones, S., Carter, K., Suri, M., Witsch-Baumgartner, M.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 815 KB

english, 2015

21

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 486 KB

english, 2012

22

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

Witsch-Baumgartner, Martina, Touitou, Isabelle

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

23

Discussion on “Surge investigations on overhead lines and cable systems” before the Institution, 10th April, 1930

Witsch-Baumgartner, Martina, Touitou, Isabelle

Journal:

Journal of the Institution of Electrical Engineers

Year:

1930

Language:

english

File:

PDF, 1.73 MB

english, 1930

24

DHCR7 mutations causing the Smith–Lemli–Opitz syndrome

Witsch-Baumgartner, Martina

Journal:

Future Lipidology

Year:

2008

Language:

english

File:

PDF, 936 KB

english, 2008

25

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

Witsch-Baumgartner, M

Journal:

Journal of Medical Genetics

Year:

2004

Language:

english

File:

PDF, 231 KB

english, 2004

26

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 577 KB

english, 2013

27

A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue

Rauchenzauner, Markus, Frühwirth, Martin, Hecht, Martin, Kofler, Markus, Witsch-Baumgartner, Martina, Fauth, Christine

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 147 KB

english, 2016

28

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

Fauth, Christine, Steindl, Katharina, Toutain, Annick, Farrell, Sandra, Witsch-Baumgartner, Martina, Karall, Daniela, Joset, Pascal, Böhm, Sebastian, Baumer, Alessandra, Maier, Oliver, Zschocke, Johan

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 600 KB

english, 2016

29

Mutations in the 7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Fitzky, B. U., Witsch-Baumgartner, M., Erdel, M., Lee, J. N., Paik, Y.-K., Glossmann, H., Utermann, G., Moebius, F. F.

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 499 KB

english, 1998

30

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis

Rudnik-Schöneborn, Sabine, Witsch-Baumgartner, Martina, Zerres, Klaus

Journal:

Gynecologic and Obstetric Investigation

Year:

2016

Language:

english

File:

PDF, 248 KB

english, 2016

31

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia

Finsterer, Josef, Safoschnik, Georg, Witsch-Baumgartner, Martina

Journal:

SAGE Open Medical Case Reports

Year:

2017

Language:

english

File:

PDF, 333 KB

english, 2017

32

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

Lepperdinger, Ulrike, Maurer, Elisabeth, Witsch-Baumgartner, Martina, Stigler, Robert, Zschocke, Johannes, Lussi, Adrian, Kapferer-Seebacher, Ines

Journal:

Clinical Oral Investigations

Year:

2020

Language:

english

File:

PDF, 1.01 MB

english, 2020

33

Correction to: Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

Lepperdinger, Ulrike, Maurer, Elisabeth, Witsch-Baumgartner, Martina, Stigler, Robert, Zschocke, Johannes, Lussi, Adrian, Kapferer-Seebacher, Ines

Journal:

Clinical Oral Investigations

Year:

2020

File:

PDF, 200 KB

2020

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