Works matching AU Thiele, Holger
Results: 505
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
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- JAMA Network Open, 2025, v. 8, n. 2, p. e2461639, doi. 10.1001/jamanetworkopen.2024.61639
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- Article
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.
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- Human Mutation, 2022, v. 43, n. 3, p. 420, doi. 10.1002/humu.24325
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- Publication type:
- Article
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
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- Human Mutation, 2021, v. 42, n. 4, p. 460, doi. 10.1002/humu.24181
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- Publication type:
- Article
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
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- Human Mutation, 2020, v. 41, n. 1, p. 169, doi. 10.1002/humu.23904
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- Publication type:
- Article
Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies.
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- Human Mutation, 2018, v. 39, n. 9, p. 1284, doi. 10.1002/humu.23560
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- Article
Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.
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- Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
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- Article
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
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- Human Mutation, 2016, v. 37, n. 2, p. 170, doi. 10.1002/humu.22934
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- Article
Mutation of POC1 B in a Severe Syndromic Retinal Ciliopathy.
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- Human Mutation, 2014, v. 35, n. 10, p. 1153, doi. 10.1002/humu.22618
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- Article
Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia.
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- Human Mutation, 2013, v. 34, n. 6, p. 860, doi. 10.1002/humu.22309
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- Article
Kardiovaskuläre Komplikationen unter Androgenentzugstherapie: Vorteil für Gonadotropin-Releasing-Hormon-Antagonisten? Ein Update.
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- 2021
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- Publication type:
- journal article
Management des akuten Koronarsyndroms.
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- Herz, 2025, v. 50, n. 1, p. 66, doi. 10.1007/s00059-024-05284-9
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- Article
Management des akuten Koronarsyndroms: ESC-Leitlinie 2023.
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- Herz, 2024, v. 49, n. 1, p. 5, doi. 10.1007/s00059-023-05222-1
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- Article
Prähospitale Reanimationen: Aktueller Stand, Ergebnisse und Verbesserungsansätze in Deutschland.
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- Herz, 2023, v. 48, n. 6, p. 456, doi. 10.1007/s00059-023-05214-1
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- Article
The changing spectrum of cardiovascular emergencies during the COVID-19 pandemic.
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- Herz, 2023, v. 48, n. 3, p. 218, doi. 10.1007/s00059-023-05174-6
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- Publication type:
- Article
Current status of antithrombotic therapy and in-hospital outcomes in patients with atrial fibrillation undergoing percutaneous coronary intervention in Germany.
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- Herz, 2023, v. 48, n. 2, p. 134, doi. 10.1007/s00059-022-05099-6
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- Publication type:
- Article
Management des akuten Koronarsyndroms ohne ST-Strecken-Hebung.
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- Herz, 2022, v. 47, n. 4, p. 381, doi. 10.1007/s00059-022-05120-y
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- Article
ERC-Leitlinien 2021 zur kardiopulmonalen Reanimation.
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- Herz, 2022, v. 47, n. 1, p. 4, doi. 10.1007/s00059-021-05082-7
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- Article
Catheter-directed therapy in pulmonary embolism.
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- Herz, 2021, v. 46, n. 5, p. 399, doi. 10.1007/s00059-021-05059-6
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- Publication type:
- Article
Kardiovaskuläre Interventionen.
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- 2021
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- Publication type:
- Editorial
Transcatheter therapies for severe tricuspid regurgitation. Quo vadis?
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- Herz, 2021, v. 46, n. 3, p. 234, doi. 10.1007/s00059-020-04941-z
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- Publication type:
- Article
Kardiologie: Grenzen überwinden, neue Welten entdecken.
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- 2021
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- Publication type:
- Editorial
COVID-19-Pandemie: Effekte auf die klinische Versorgung von Herz-Kreislauf-Patienten im Frühling 2020.
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- Herz, 2021, v. 46, n. 2, p. 115, doi. 10.1007/s00059-020-05015-w
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- Publication type:
- Article
ESC-Leitlinie 2020: akutes Koronarsyndrom ohne persistierende ST-Strecken-Hebungen: Was ist neu?
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- Herz, 2021, v. 46, n. 1, p. 3, doi. 10.1007/s00059-020-05002-1
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- Article
Revascularization in cardiogenic shock.
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- Herz, 2020, v. 45, n. 6, p. 537, doi. 10.1007/s00059-020-04956-6
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- Article
Multivessel vs. culprit-lesion only percutaneous coronary intervention in ST-elevation myocardial infarction.
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- Herz, 2020, v. 45, n. 6, p. 542, doi. 10.1007/s00059-020-04937-9
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- Article
Noninvasive functional testing after ISCHEMIA: gatekeeper or phased-out model?
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- 2020
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- Publication type:
- Editorial
Cardiovascular emergencies in the COVID-19 pandemic.
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- 2020
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- Publication type:
- Letter
Ventilation of COVID-19 patients in intensive care units.
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- 2020
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- Publication type:
- Letter
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
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- Birth Defects Research, 2019, v. 111, n. 10, p. 591, doi. 10.1002/bdr2.1493
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- Article
Exome sequencing in syndromic brain malformations identifies novel mutations in <italic>ACTB</italic>, and <italic>SLC9A6</italic>, and suggests <italic>BAZ1A</italic> as a new candidate gene.
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- Birth Defects Research, 2018, v. 110, n. 7, p. 587, doi. 10.1002/bdr2.1200
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- Publication type:
- Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features.
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- Human Genetics, 2021, v. 140, n. 12, p. 1679, doi. 10.1007/s00439-021-02347-3
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- Publication type:
- Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
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- Human Genetics, 2020, v. 139, n. 11, p. 1443, doi. 10.1007/s00439-020-02188-6
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- Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
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- Human Genetics, 2020, v. 139, n. 11, p. 1363, doi. 10.1007/s00439-020-02175-x
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- Article
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.
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- Human Genetics, 2020, v. 139, n. 4, p. 483, doi. 10.1007/s00439-019-02105-6
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- Article
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
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- Human Genetics, 2019, v. 138, n. 6, p. 593, doi. 10.1007/s00439-019-02000-0
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- Article
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
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- Human Genetics, 2018, v. 137, n. 11/12, p. 921, doi. 10.1007/s00439-018-1957-1
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- Article
Mutations of PTPN23 in developmental and epileptic encephalopathy.
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- Human Genetics, 2017, v. 136, n. 11/12, p. 1455, doi. 10.1007/s00439-017-1850-3
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- Article
Comprehensive characterization of cardiac contraction for improved post-infarction risk assessment.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59114-3
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- Article
Ventricular arrhythmias in patients with Takotsubo syndrome.
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- Journal of Arrhythmia, 2018, v. 34, n. 4, p. 369, doi. 10.1002/joa3.12029
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- Article
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
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- Biomolecules (2218-273X), 2023, v. 13, n. 7, p. 1117, doi. 10.3390/biom13071117
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- Article
Cardiovascular Magnetic Resonance Imaging for Diagnosis of Stress Cardiomyopathy.
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- JAMA: Journal of the American Medical Association, 2011, v. 306, n. 19, p. 2093, doi. 10.1001/jama.2011.1656
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- Article
Intra-aortic Balloon Counterpulsation and Infarct Size in Patients With Acute Anterior Myocardial Infarction Without Shock: The CRISP AMI Randomized Trial.
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- JAMA: Journal of the American Medical Association, 2011, v. 306, n. 12, p. 1329, doi. 10.1001/jama.2011.1280
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- Publication type:
- Article
Clinical Characteristics and Cardiovascular Magnetic Resonance Findings in Stress (Takotsubo) Cardiomyopathy.
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- JAMA: Journal of the American Medical Association, 2011, v. 306, n. 3, p. 277, doi. 10.1001/jama.2011.992
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- Publication type:
- Article
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
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- 2018
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- Publication type:
- journal article
Incidence and characteristics of ventricular tachycardia in patients after percutaneous coronary revascularization of chronic total occlusions.
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- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225580
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- Publication type:
- Article
A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1251, doi. 10.1002/ajmg.a.62610
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- Publication type:
- Article
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 216, doi. 10.1002/ajmg.a.62525
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- Article
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3900, doi. 10.1002/ajmg.a.62438
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- Article
Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1678, doi. 10.1002/ajmg.a.62148
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- Article
Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 90, doi. 10.1002/ajmg.a.61917
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- Article