Search details
1.
Transcatheter or Surgical Treatment of Aortic-Valve Stenosis.
N Engl J Med
; 390(17): 1572-1583, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38588025
2.
Variant effect predictors: a systematic review and practical guide.
Hum Genet
; 143(5): 625-634, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38573379
3.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34626583
4.
Unrecognized myocardial scar by late-gadolinium-enhancement cardiovascular magnetic resonance: Insights from the population-based Hamburg City Health Study.
J Cardiovasc Magn Reson
; 26(1): 101008, 2024 Feb 09.
Article
in English
| MEDLINE | ID: mdl-38341145
5.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain
; 146(2): 668-677, 2023 02 13.
Article
in English
| MEDLINE | ID: mdl-35857854
6.
Calibrating machine learning approaches for probability estimation: A comprehensive comparison.
Stat Med
; 42(29): 5451-5478, 2023 12 20.
Article
in English
| MEDLINE | ID: mdl-37849356
7.
Multi-organ assessment in mainly non-hospitalized individuals after SARS-CoV-2 infection: The Hamburg City Health Study COVID programme.
Eur Heart J
; 43(11): 1124-1137, 2022 03 14.
Article
in English
| MEDLINE | ID: mdl-34999762
8.
[Molecular therapies: present and future in neuromuscular diseases]. / Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen.
Nervenarzt
; 94(6): 473-487, 2023 Jun.
Article
in German
| MEDLINE | ID: mdl-37221259
9.
[Precision medicine in pediatric neurology exemplified by the new treatment forms]. / Präzisionsmedizin in der Kinderneurologie am Beispiel der neuen Therapien.
Nervenarzt
; 93(2): 122-134, 2022 Feb.
Article
in German
| MEDLINE | ID: mdl-35037966
10.
Focus on time: dynamic imaging reveals stretch-dependent cell relaxation and nuclear deformation.
Biophys J
; 120(5): 764-772, 2021 03 02.
Article
in English
| MEDLINE | ID: mdl-33524370
11.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34054129
12.
Diagnostic Validation of a High-Sensitivity Cardiac Troponin I Assay.
Clin Chem
; 67(9): 1230-1239, 2021 09 01.
Article
in English
| MEDLINE | ID: mdl-34254126
13.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32979048
14.
Osteosynthesis of the Mandibular Condyle With Magnesium-Based Biodegradable Headless Compression Screws Show Good Clinical Results During a 1-Year Follow-Up Period.
J Oral Maxillofac Surg
; 79(3): 637-643, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-32224081
15.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 2021 Apr 27.
Article
in German
| MEDLINE | ID: mdl-33906241
16.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 89(12): 630-636, 2021 Dec.
Article
in German
| MEDLINE | ID: mdl-33561874
17.
Intracellular calcium phosphate deposits contribute to transcellular calcium transport within the hepatopancreas of Porcellio scaber.
J Struct Biol
; 212(2): 107613, 2020 11 01.
Article
in English
| MEDLINE | ID: mdl-32891730
18.
Functional adaptations in the tergite cuticle of the desert isopod Hemilepistus reaumuri (Milne-Edwards, 1840).
J Struct Biol
; 212(1): 107570, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32650132
19.
Metal-triggered conformational reorientation of a self-peptide bound to a disease-associated HLA-B*27 subtype.
J Biol Chem
; 294(36): 13269-13279, 2019 09 06.
Article
in English
| MEDLINE | ID: mdl-31296658
20.
Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy.
J Neurochem
; 153(5): 650-661, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31903607