Search Results - "Preisel M"

Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types.

Authors: Disse S Ramantani G Küpper H et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jul 02; Vol. 20 (1), pp. 336. Date of Electronic Publication: 2025 Jul 02.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.

Authors: Schröder, Simone Yigit, Gökhan Li, Yun et al.

Source: Orphanet Journal of Rare Diseases. 5/2/2023, Vol. 18 Issue 1, p1-11. 11p.

Assessing the Threat of Southern Pine Beetle to Pitch Pine in Acadia National Park.

Authors: Kanaskie, Caroline R. Ducey, Mark J. Garnas, Jeff R.

Source: Northeastern Naturalist. 2026, Vol. 33 Issue 1, p23-43. 21p.

The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study.

Authors: Disse SC Küpper H Bock A et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2025 Jan; Vol. 54, pp. 200-209. Date of Electronic Publication: 2025 Feb 11.

Publication Type: Journal Article; Multicenter Study; Observational Study

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Pension system design: roles and interdependencies of tax-financed and funded pensions.

Authors: Jarner, Søren F. Jallbjørn, Snorre Andersen, Torben M.

Source: Scandinavian Actuarial Journal. Oct2024, Vol. 2024 Issue 8, p813-847. 35p.

Distinct Alterations in Dendritic Spine Morphology in the Absence of β-Neurexins.

Authors: Mohrmann, Leonie Seebach, Jochen Missler, Markus et al.

Source: International Journal of Molecular Sciences. Jan2024, Vol. 25 Issue 2, p1285. 21p.

FALSE POSITIVE TROPONIN - A TRUE PROBLEM.

Alternate Title: LAŽNO POZITIVNI TROPONIN - ISTINIT PROBLEM.

Authors: KoraĆević1, Goran Ćosić, Vladan Stojanović, Ivana

Source: Journal of Medical Biochemistry. 2013, Vol. 32 Issue 3, p197-206. 10p.

A20 (TNFAIP3) Distinguishes Relapse from Remission in Pediatric Patients with Monophasic MOGAD: Preliminary Results.

Authors: Lechner, C. Saxena, S. Lokhande, H. et al.

Source: Neuropediatrics. 2023 Supplement 1, Vol. 54, pS1-S32. 32p.

ECTRIMS 2021 - Author Index.

Source: Multiple sclerosis: clinical and laboratory research Oct2021 Suppelemt; Vol. 27.

Journal Info: Publisher: Sage Publications Inc. ISSN: 1352-4585

Evaluation of probabilistic flow predictions in sewer systems using grey box models and a skill score criterion.

Authors: Thordarson, Fannar Breinholt, Anders Møller, Jan et al.

Source: Stochastic Environmental Research & Risk Assessment. Dec2012, Vol. 26 Issue 8, p1151-1162. 12p. 4 Charts, 5 Graphs, 1 Map.

Positive troponin T without cardiac involvement in inclusion body myositis.

Authors: Schwarzmeier JD Hamwi A Preisel M et al.

Source: Human pathology [Hum Pathol] 2005 Aug; Vol. 36 (8), pp. 917-21.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: W B Saunders Country of Publication: United States NLM ID: 9421547 Publication Model: Print Cited Medium: Print ISSN: 0046-8177 (Print) Linking ISSN: 00468177 NLM ISO Abbreviation: Hum Pathol Subsets: MEDLINE

Author and Poster Index.

Source: European journal of neurology Jun2015 Supplement; Vol. 22.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1351-5101

Case Report-An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions.

Authors: Feichtinger RG Preisel M Brugger K et al.

Source: Genes [Genes (Basel)] 2023 Jun 02; Vol. 14 (6). Date of Electronic Publication: 2023 Jun 02.

Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Authors: Ebstein F Küry S Most V et al.

Source: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Pension Fund Design under Long-term Fairness Constraints.

Authors: Kryger, Esben Masotti¹

Source: Geneva Risk & Insurance Review. Dec2010, Vol. 35 Issue 2, p130-159. 30p. 3 Charts, 6 Graphs.

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome.

Authors: Feichtinger RG Preisel M Steinbrücker K et al.

Source: Genes [Genes (Basel)] 2022 Nov 23; Vol. 13 (12). Date of Electronic Publication: 2022 Nov 23.

Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review.

Authors: Lee SG Evans G Stephen M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63496. Date of Electronic Publication: 2024 Jan 28.

Publication Type: Journal Article; Scoping Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.

Authors: Guo Z Gong A Liu S et al.

Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2023 May; Vol. 298 (3), pp. 603-614. Date of Electronic Publication: 2023 Mar 11.

Publication Type: Review; Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE

Untargeted LC-HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1.

Authors: Mujamammi AH Mazi TA AlMalki RH et al.

Source: Metabolites [Metabolites] 2026 Mar 23; Vol. 16 (3). Date of Electronic Publication: 2026 Mar 23.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

Positive troponin-T in noncompaction is associated with neuromuscular disorders and poor outcome.

Authors: Finsterer J Stöllberger C Krugluger W

Source: Clinical research in cardiology : official journal of the German Cardiac Society [Clin Res Cardiol] 2007 Feb; Vol. 96 (2), pp. 109-13. Date of Electronic Publication: 2006 Dec 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer Medizin Country of Publication: Germany NLM ID: 101264123 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1861-0684 (Print) Linking ISSN: 18610684 NLM ISO Abbreviation: Clin Res Cardiol Subsets: MEDLINE