Found: 30
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Platelet characteristics in patients with essential thrombocytosis.
- Published in:
- Cytometry. Part B, 2018, v. 94, n. 6, p. 918, doi. 10.1002/cyto.b.21642
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- Publication type:
- Article
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
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- Science Signaling, 2018, v. 11, n. 518, p. 1, doi. 10.1126/scisignal.aan3714
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- Publication type:
- Article
Short-term biological variation of plasma uracil in a Caucasian healthy population.
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- Clinical Chemistry & Laboratory Medicine, 2023, v. 61, n. 8, p. 1490, doi. 10.1515/cclm-2022-1167
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- Publication type:
- Article
False low holotranscobalamin levels in a patient with a novel TCN2 mutation.
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- Clinical Chemistry & Laboratory Medicine, 2016, v. 54, n. 11, p. 1739, doi. 10.1515/cclm-2016-0063
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- Publication type:
- Article
Three family members with elevated plasma cobalamin, transcobalamin and soluble transcobalamin receptor (sCD320).
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- Clinical Chemistry & Laboratory Medicine, 2013, v. 51, n. 3, p. 677, doi. 10.1515/cclm-2012-0554
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- Publication type:
- Article
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study.
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- 2011
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- Publication type:
- journal article
AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.
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- European Journal of Endocrinology, 2017, v. 176, n. 2, p. 177, doi. 10.1530/EJE-16-0842
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- Publication type:
- Article
Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR).
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- European Journal of Endocrinology, 2013, v. 169, n. 3, p. 349, doi. 10.1530/EJE-13-0224
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- Publication type:
- Article
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
- Published in:
- 2018
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- Publication type:
- journal article
Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children.
- Published in:
- EJHaem, 2023, v. 4, n. 1, p. 18, doi. 10.1002/jha2.627
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- Publication type:
- Article
Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3.
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- Clinical Case Reports, 2016, v. 4, n. 10, p. 922, doi. 10.1002/ccr3.657
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- Publication type:
- Article
Genetic Determinants of On-Aspirin Platelet Reactivity: Focus on the Influence of PEAR1.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0111816
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- Publication type:
- Article
Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 11, p. 4373, doi. 10.1210/jc.2007-0322
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- Publication type:
- Article
Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods.
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- Clinical Endocrinology, 2008, v. 69, n. 5, p. 713, doi. 10.1111/j.1365-2265.2008.03259.x
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- Publication type:
- Article
Sudden Cardiac Death in Young Adults: Environmental Risk Factors and Genetic Aspects of Premature Atherosclerosis*<sup>,</sup>†.
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- Journal of Forensic Sciences, 2012, v. 57, n. 3, p. 658, doi. 10.1111/j.1556-4029.2011.02028.x
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- Publication type:
- Article
Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
- Published in:
- 2014
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- Publication type:
- Case Study
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
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- BMC Medical Genetics, 2006, v. 7, p. 55, doi. 10.1186/1471-2350-7-55
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- Publication type:
- Article
Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
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- BMC Medical Genetics, 2005, v. 6, p. 15, doi. 10.1186/1471-2350-6-15
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- Publication type:
- Article
Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
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- BMC Medical Genetics, 2005, v. 6, p. 6, doi. 10.1186/1471-2350-6-6
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- Publication type:
- Article
Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 269, doi. 10.1007/s10545-010-9145-z
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- Publication type:
- Article
Mapping of porcine genes belonging to two different cytochrome P450 subfamilies.
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- Animal Genetics, 1998, v. 29, n. 1, p. 7, doi. 10.1046/j.1365-2052.1998.00225.x
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- Publication type:
- Article
Impact of centrifugation time and pneumatic tube transport on plasma concentrations of direct oral anticoagulants.
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- International Journal of Laboratory Hematology, 2022, v. 44, n. 1, p. 216, doi. 10.1111/ijlh.13729
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- Publication type:
- Article
Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy.
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- Human Mutation, 2013, v. 34, n. 5, p. 697, doi. 10.1002/humu.22289
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- Publication type:
- Article
Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia.
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- 2018
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- Publication type:
- journal article
Genetic mapping of spinal dysmyelination in cross-bred American Brown Swiss cattle to bovine Chromosome 11.
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- Mammalian Genome, 2001, v. 12, n. 2, p. 180, doi. 10.1007/s003350010245
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- Publication type:
- Article
Advanced Flow Cytometry Using the SYTO-13 Dye for the Assessment of Platelet Reactivity and Maturity in Whole Blood.
- Published in:
- Methods & Protocols, 2023, v. 6, n. 1, p. 8, doi. 10.3390/mps6010008
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- Publication type:
- Article
Expanding the spectrum of genetic variants in the calcium‐sensing receptor (CASR) gene in hypercalcemic individuals.
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- Clinical Endocrinology, 2019, v. 91, n. 5, p. 683, doi. 10.1111/cen.14078
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- Publication type:
- Article
Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders.
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- Clinical Endocrinology, 2010, v. 72, n. 6, p. 758, doi. 10.1111/j.1365-2265.2009.03750.x
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- Publication type:
- Article
Skeletal consequences of familial hypocalciuric hypercalcaemia vs. primary hyperparathyroidism.
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- Clinical Endocrinology, 2009, v. 71, n. 6, p. 798, doi. 10.1111/j.1365-2265.2009.03557.x
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- Publication type:
- Article
Development of a high-resolution melting genotyping assay for the angiotensin I converting enzyme insertion/deletion polymorphism and establishment of genotype-specific reference intervals in a Danish population.
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- Annals of Clinical Biochemistry, 2015, v. 52, n. 1, p. 105, doi. 10.1177/0004563214529261
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- Publication type:
- Article