Beck-Wödl S - Search Results

1

Patient-individual phenotypes of glioblastoma stem cells are conserved in culture and associate with radioresistance, brain infiltration and patient prognosis.

Ganser K, Eckert F, Riedel A, Stransky N, Paulsen F, Noell S, Krueger M, Schittenhelm J, Beck-Wödl S, Zips D, Ruth P, Huber SM, Klumpp L. Ganser K, et al. Among authors: beck wodl s. Int J Cancer. 2022 May 15;150(10):1722-1733. doi: 10.1002/ijc.33950. Epub 2022 Feb 14. Int J Cancer. 2022. PMID: 35085407 Free article.

2

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

Lemke JR, Beck-Wödl S, Zankl A, Riegel M, Krämer G, Dorn T. Lemke JR, et al. Seizure. 2009 Nov;18(9):660-3. doi: 10.1016/j.seizure.2009.07.008. Epub 2009 Aug 19. Seizure. 2009. PMID: 19695908 Free article.

3

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO. Dufke A, et al. Among authors: beck wodl s. Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20. Prenat Diagn. 2022. PMID: 35574990

4

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

Grünert SC, Hannibal L, Schumann A, Rosenbaum-Fabian S, Beck-Wödl S, Haack TB, Grimmel M, Bertrand M, Spiekerkoetter U. Grünert SC, et al. Diagnostics (Basel). 2021 Mar 12;11(3):500. doi: 10.3390/diagnostics11030500. Diagnostics (Basel). 2021. PMID: 33809020 Free PMC article.

5

Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

Beck-Wödl S, Kehrer C, Harzer K, Haack TB, Bürger F, Haas D, Rieß A, Groeschel S, Krägeloh-Mann I, Böhringer J. Beck-Wödl S, et al. JIMD Rep. 2020 Dec 8;58(1):80-88. doi: 10.1002/jmd2.12189. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728250 Free PMC article.

6

Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.

Harzer K, Beck-Wödl S, Haack TB. Harzer K, et al. J Cutan Pathol. 2022 Mar;49(3):293-298. doi: 10.1111/cup.14154. Epub 2021 Nov 7. J Cutan Pathol. 2022. PMID: 34672003

7

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L. Synofzik M, et al. Orphanet J Rare Dis. 2014 Feb 14;9:24. doi: 10.1186/1750-1172-9-24. Orphanet J Rare Dis. 2014. PMID: 24528855 Free PMC article.

8

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

Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L. Soehn AS, et al. Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17. Neurology. 2016. PMID: 27316240 Free PMC article.

9

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.

Reuter MS, Riess A, Moog U, Briggs TA, Chandler KE, Rauch A, Stampfer M, Steindl K, Gläser D, Joset P; DDD Study; Krumbiegel M, Rabe H, Schulte-Mattler U, Bauer P, Beck-Wödl S, Kohlhase J, Reis A, Zweier C. Reuter MS, et al. J Med Genet. 2017 Jan;54(1):64-72. doi: 10.1136/jmedgenet-2016-104094. Epub 2016 Aug 29. J Med Genet. 2017. PMID: 27572252

10

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

Beck-Wödl S, Harzer K, Sturm M, Buchert R, Rieß O, Mennel HD, Latta E, Pagenstecher A, Keber U. Beck-Wödl S, et al. Acta Neuropathol Commun. 2018 Dec 27;6(1):145. doi: 10.1186/s40478-018-0646-6. Acta Neuropathol Commun. 2018. PMID: 30591081 Free PMC article.

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