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Real-time MR with TrueFISP for the detection of acute pulmonary embolism: initial clinical experience.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculus.
- Published in:
- Pest Management Science, 2012, v. 68, n. 2, p. 254, doi. 10.1002/ps.2254
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- Publication type:
- Article
Several interacting genes influence the malignant hyperthermia phenotype.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 217, doi. 10.1007/s00439-002-0864-6
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- Publication type:
- Article
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
- Published in:
- 2019
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- Publication type:
- journal article
Mapping Undetected Mutations within a Gene - Evidence for Two Preferential Regions in the DMD Gene.
- Published in:
- Human Heredity, 1997, v. 47, n. 2, p. 61, doi. 10.1159/000154393
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- Publication type:
- Article
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
- Published in:
- Nature, 2004, v. 427, n. 6974, p. 537, doi. 10.1038/nature02214
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- Publication type:
- Article
Applications and data analysis of next-generation sequencing.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 3, p. 468
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- Publication type:
- Article
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2944, doi. 10.1093/hmg/ddm255
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- Publication type:
- Article
Observation of directly interacting coherent two-level systems in an amorphous material.
- Published in:
- Nature Communications, 2015, v. 6, n. 2, p. 6182, doi. 10.1038/ncomms7182
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- Publication type:
- Article
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 808, doi. 10.1038/ejhg.2014.191
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- Publication type:
- Article
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 208, doi. 10.1038/ejhg.2013.108
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- Publication type:
- Article
Klassifizierung von 'variants of unknown significance' (VUS) beim familiären Brust- und Eierstockkrebs.
- Published in:
- Medizinische Genetik, 2015, v. 27, n. 2, p. 211, doi. 10.1007/s11825-015-0049-z
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- Publication type:
- Article
Rapid sexing of native amniotic cells by hybridization to a cloned Y chromosome DNA probe.
- Published in:
- Journal of Perinatal Medicine, 1986, v. 14, n. 2, p. 127
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- Publication type:
- Article
Cover Picture: Enantioselective Ammonium Ylide Mediated One‐Pot Synthesis of Highly Substituted γ‐Butyrolactones (Adv. Synth. Catal. 12/2020).
- Published in:
- Advanced Synthesis & Catalysis, 2020, v. 362, n. 12, p. 2288, doi. 10.1002/adsc.202000474
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- Publication type:
- Article
Enantioselective Ammonium Ylide Mediated One‐Pot Synthesis of Highly Substituted γ‐Butyrolactones.
- Published in:
- Advanced Synthesis & Catalysis, 2020, v. 362, n. 12, p. 2385, doi. 10.1002/adsc.202000039
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- Publication type:
- Article
Assessing the Ion Transport Properties of Highly Concentrated Non‐Flammable Electrolytes in a Commercial Li‐Ion Battery Cell.
- Published in:
- Batteries & Supercaps, 2020, v. 3, n. 1, p. 117, doi. 10.1002/batt.201900111
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- Publication type:
- Article
A standardized framework for the validation and verification of clinical molecular genetic tests.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1276, doi. 10.1038/ejhg.2010.101
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- Publication type:
- Article
Particle Rearrangement and Pore Space Coarsening During Solid-State Sintering.
- Published in:
- Journal of the American Ceramic Society, 2009, v. 92, n. 7, p. 1384, doi. 10.1111/j.1551-2916.2009.02978.x
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- Publication type:
- Article
FUNDAMENTAL RIGHTS IN MULTI-LEVEL LEGAL SYSTEMS: RECENT DEVELOPMENTS IN EUROPEAN HUMAN RIGHTS PRACTICE.
- Published in:
- Interdisciplinary Journal of Human Rights Law, 2007, v. 2, p. 33
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- Publication type:
- Article
Synthesis and VCD Spectroscopic Characterization of a Series of Azacryptands from a Chiral Valine‐Based Derivative of Tris(2‐aminoethyl)amine (TREN).
- Published in:
- Chemistry - A European Journal, 2023, v. 29, n. 63, p. 1, doi. 10.1002/chem.202302126
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- Publication type:
- Article
Der Klimawandel und das Menschenrechtssystem der Vereinten Nationen.
- Published in:
- Journal for Human Rights / Zeitschrift für Menschenrechte, 2010, v. 4, n. 2, p. 7
- By:
- Publication type:
- Article
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Compound heterozygous mutations in the γ-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.
- Published in:
- British Journal of Haematology, 2004, v. 126, n. 4, p. 546, doi. 10.1111/j.1365-2141.2004.05071.x
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- Publication type:
- Article
Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
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- Publication type:
- Article
SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder.
- Published in:
- Journal of Child Psychology, 2017, v. 58, n. 7, p. 798, doi. 10.1111/jcpp.12702
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- Publication type:
- Article
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-26
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- Publication type:
- Article
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Preinfection laboratory parameters may predict COVID‐19 severity in tumor patients.
- Published in:
- Cancer Medicine, 2021, v. 10, n. 13, p. 4424, doi. 10.1002/cam4.4023
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- Publication type:
- Article
Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN).
- Published in:
- 2001
- By:
- Publication type:
- journal article
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
- Published in:
- Biological Chemistry, 2005, v. 386, n. 1, p. 61, doi. 10.1515/BC.2005.008
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- Publication type:
- Article
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E490, doi. 10.1002/humu.20941
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- Publication type:
- Article
Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 280, doi. 10.1002/humu.1380010403
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- Publication type:
- Article
Static Crystallization, an Alternative Methodology for Synthesis of High-Purity Aluminum.
- Published in:
- Metals (2075-4701), 2023, v. 13, n. 2, p. 280, doi. 10.3390/met13020280
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- Publication type:
- Article
Detecting species-site dependencies in large multiple sequence alignments.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 18, p. 5959, doi. 10.1093/nar/gkp634
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- Publication type:
- Article
Reintitan als Knochenersatzmaterial.
- Published in:
- Oral & Maxillofacial Surgery, 2000, v. 4, n. 2, p. S504, doi. 10.1007/PL00012701
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- Publication type:
- Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
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- Publication type:
- Article
Missense mutations at ALA-10 in the factor IX propeptide: an insignificant variant in normal life but a decisive cause of bleeding during oral anticoagulant therapy.
- Published in:
- British Journal of Haematology, 1997, v. 98, n. 1, p. 240, doi. 10.1046/j.1365-2141.1997.2213036.x
- By:
- Publication type:
- Article
Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
- Published in:
- BMC Cell Biology, 2004, v. 5, p. 12, doi. 10.1186/1471-2121-5-12
- By:
- Publication type:
- Article
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 4, p. 379, doi. 10.1093/hmg/ddg032
- By:
- Publication type:
- Article
Identification of four novelmutations in the C-terminal membrane spanning domain of the ryanodinereceptor 1: association with central core disease and alterationof calcium homeostasis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2879, doi. 10.1093/hmg/10.25.2879
- By:
- Publication type:
- Article
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1853
- By:
- Publication type:
- Article
Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.
- Published in:
- BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2156-15-17
- By:
- Publication type:
- Article
Novel mutations in the VKORC1 gene of wild rats and mice -- a response to 50 years of selection pressure by warfarin?
- Published in:
- BMC Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2156-10-4
- By:
- Publication type:
- Article