Detalhe da pesquisa
1.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Am J Hum Genet
; 107(4): 753-762, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32910914
2.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clin Genet
; 104(2): 198-209, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198960
3.
Epidemiology of Tumor-Induced Osteomalacia in Germany Based on Real World Data.
Calcif Tissue Int
; 113(6): 630-639, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37980279
4.
Epidemiology of mature T/NK-cell lymphomas in Germany - A representative cross-sectional study based on SHI claims data.
J Dtsch Dermatol Ges
; 21(11): 1320-1327, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37845021
5.
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clin Genet
; 101(1): 87-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664257
6.
Care reality of menopausal women in Germany: healthcare research using quantitative (SHI claims data) and qualitative (survey) data collection.
Arch Gynecol Obstet
; 306(2): 513-521, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253085
7.
Real-world data and treatment patterns of patients with lower urinary tract symptoms due to benign prostatic hyperplasia in Germany: an observational study using health insurance claims data.
World J Urol
; 39(12): 4381-4388, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292368
8.
Correction to: Imaging Intensity and Survival Outcomes in High-Risk Resected Melanoma Treated by Systemic Therapy at Recurrence.
Ann Surg Oncol
; 27(Suppl 3): 976-977, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444913
9.
Imaging Intensity and Survival Outcomes in High-Risk Resected Melanoma Treated by Systemic Therapy at Recurrence.
Ann Surg Oncol
; 27(10): 3683-3691, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32363515
10.
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Hum Mol Genet
; 26(11): 2062-2075, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369444
11.
Outcome comparison of integrated psycho-oncological care versus unstructured care-Results of a non-randomised open-label two-arm trial.
Eur J Cancer Care (Engl)
; 28(5): e13127, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245886
12.
Identification and characterization of a missense mutation in the O-linked ß-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
J Biol Chem
; 292(21): 8948-8963, 2017 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302723
13.
Epidemiologie reifzelliger T- und NK-Zell-Lymphome in Deutschland - Eine repräsentative Querschnittanalyse von GKV-Routinedaten: Epidemiology of mature T/NK-cell lymphomas in Germany - A representative cross-sectional study based on SHI claims data.
J Dtsch Dermatol Ges
; 21(11): 1320-1328, 2023 11.
Artigo
em Alemão
| MEDLINE | ID: mdl-37946651
14.
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
Hum Mol Genet
; 24(17): 4848-61, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26056227
15.
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Nat Genet
; 39(4): 451-3, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17334363
16.
Contribution of retinoid X receptor signaling to the specification of skeletal muscle lineage.
J Biol Chem
; 286(30): 26806-12, 2011 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21653693
17.
Anticoagulation Therapy in Cancer Patients with Thrombosis in the Outpatient Sector of Germany (The CERTIFICAT Initiative)-German Practice of Anticoagulation Therapy of Cancer Patients with Thrombosis.
Hamostaseologie
; 42(3): 166-173, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34879420
18.
Persistence With Biologic Therapy and Associated Costs of Patients With Inflammatory Bowel Disease: A German Retrospective Claims Data Analysis.
Crohns Colitis 360
; 3(2): otab011, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36778945
19.
Spinal cord stimulation: a real-world data analysis on outcomes and differences between rechargeable and non-rechargeable implantable pulse generators.
J Int Med Res
; 49(8): 3000605211038457, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459276
20.
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34117073