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Clonal hematopoiesis in patients with Covid‐19 is stable and not linked to an aggravated clinical course.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 9, p. E331, doi. 10.1002/ajh.26251
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- Publication type:
- Article
The prognostic value of additional copies of 1q21 in multiple myeloma depends on the primary genetic event.
- Published in:
- American Journal of Hematology, 2020, v. 95, n. 12, p. 1562, doi. 10.1002/ajh.25994
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- Publication type:
- Article
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 19, doi. 10.1007/s004390100554
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- Publication type:
- Article
Molecular and functional characterisation of mild MCAD deficiency.
- Published in:
- Human Genetics, 2001, v. 108, n. 5, p. 404, doi. 10.1007/s004390100501
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- Publication type:
- Article
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2023.1157421
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- Publication type:
- Article
Stratification of Homologous Recombination Deficiency-Negative High-Grade Ovarian Cancer by the Type of Peritoneal Spread into Two Groups with Distinct Survival Outcomes.
- Published in:
- Cancers, 2024, v. 16, n. 11, p. 2129, doi. 10.3390/cancers16112129
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- Publication type:
- Article
The Association of Residential Altitude on the Molecular Profile and Survival of Melanoma: Results of an Interreg Study.
- Published in:
- Cancers, 2020, v. 12, n. 10, p. 2796, doi. 10.3390/cancers12102796
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- Publication type:
- Article
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome.
- Published in:
- Journal of Clinical Periodontology, 2022, v. 49, n. 12, p. 1244, doi. 10.1111/jcpe.13698
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- Publication type:
- Article
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 5, p. 743, doi. 10.1002/ana.22095
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- Publication type:
- Article
Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 1, p. 17, doi. 10.1111/ddg.13968
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- Publication type:
- Article
Spektrum der Ichthyosen in einer österreichischen Ichthyosekohorte von 2004–2007.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 1, p. 17, doi. 10.1111/ddg.13968_g
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- Publication type:
- Article
Gestörte Hautbarriere bei zwei österreichischen Schwestern mit autosomal‐rezessiver kongenitaler Ichthyose (ARCI) verursacht durch eine Missense‐Mutation in SDR9C7.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 7, p. 742, doi. 10.1111/ddg.13843_g
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- Publication type:
- Article
Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 7, p. 742, doi. 10.1111/ddg.13843
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- Publication type:
- Article
Family History for Neurodegeneration in Multiple System Atrophy: Does it Indicate Susceptibility?
- Published in:
- Movement Disorders, 2022, v. 37, n. 11, p. 2310, doi. 10.1002/mds.29202
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- Publication type:
- Article
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101350
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- Publication type:
- Article
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 2, p. 149, doi. 10.3390/biom11020149
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- Publication type:
- Article
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
- Published in:
- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01506
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- Publication type:
- Article
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
- Published in:
- 2016
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- Publication type:
- journal article
Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1257, doi. 10.1007/s00431-014-2375-6
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- Publication type:
- Article
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 4, p. 279, doi. 10.1007/s00431-002-1110-x
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- Publication type:
- Article
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, p. 152, doi. 10.2340/00015555-3428
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- Publication type:
- Article
CNDP1 genotype and renal survival in pediatric nephropathies.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 7, p. 827, doi. 10.1515/jpem-2015-0262
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- Publication type:
- Article
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
- Published in:
- Human Mutation, 2022, v. 43, n. 1, p. 85, doi. 10.1002/humu.24299
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- Publication type:
- Article
AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1145, doi. 10.1002/humu.24005
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- Publication type:
- Article
Genotype and phenotype variability in Sjögren‐Larsson syndrome.
- Published in:
- Human Mutation, 2019, v. 40, n. 2, p. 177, doi. 10.1002/humu.23679
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- Publication type:
- Article
Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 2, p. 175, doi. 10.1002/bdr2.1620
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- Publication type:
- Article
High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series.
- Published in:
- Clinical Oral Implants Research, 2018, v. 29, n. 11, p. 1101, doi. 10.1111/clr.13373
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- Publication type:
- Article
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1177, doi. 10.1038/ejhg.2013.18
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- Publication type:
- Article
Inherited ichthyoses/generalized Mendelian disorders of cornification.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 123, doi. 10.1038/ejhg.2012.121
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- Publication type:
- Article
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 286, doi. 10.1038/ejhg.2012.169
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- Publication type:
- Article
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
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- Publication type:
- Article
Clinical utility gene card for: Phenylketonuria.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 1, doi. 10.1038/ejhg.2011.172
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- Publication type:
- Article
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101
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- Publication type:
- Article
Two patients with Papillon–Lefèvre syndrome without periodontal involvement of the permanent dentition.
- Published in:
- Journal of Dermatology, 2021, v. 48, n. 4, p. 537, doi. 10.1111/1346-8138.15720
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- Publication type:
- Article
Array genotyping as diagnostic approach in medical genetics.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2016
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- Publication type:
- Article
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.539
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- Publication type:
- Article
Cover Image.
- Published in:
- 2017
- By:
- Publication type:
- Cover Art
Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.
- Published in:
- Journal of Clinical Periodontology, 2017, v. 44, n. 11, p. 1088, doi. 10.1111/jcpe.12807
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- Publication type:
- Article
Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 11, p. 1, doi. 10.1007/s00018-022-04579-6
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- Publication type:
- Article
Intrinsic carnosine metabolism in the human kidney.
- Published in:
- Amino Acids, 2015, v. 47, n. 12, p. 2541, doi. 10.1007/s00726-015-2045-7
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- Publication type:
- Article
Carnosine metabolism in diabetes is altered by reactive metabolites.
- Published in:
- Amino Acids, 2015, v. 47, n. 11, p. 2367, doi. 10.1007/s00726-015-2024-z
- By:
- Publication type:
- Article
Carnosine treatment largely prevents alterations of renal carnosine metabolism in diabetic mice.
- Published in:
- Amino Acids, 2012, v. 42, n. 6, p. 2411, doi. 10.1007/s00726-011-1046-4
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- Publication type:
- Article
Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity.
- Published in:
- Amino Acids, 2010, v. 38, n. 5, p. 1607, doi. 10.1007/s00726-009-0367-z
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- Publication type:
- Article
Detection and analysis of pulse waves during sleep via wrist-worn actigraphy.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. N.PAG, doi. 10.1371/journal.pone.0226843
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- Publication type:
- Article
Institut für Humangenetik der Medizinischen Universität Innsbruck feiert seine 60-jährige Geschichte und gibt Ausblicke in die Zukunft der Genomischen Medizin.
- Published in:
- 2024
- By:
- Publication type:
- Proceeding
Staffelübergabe in der Redaktionsleitung.
- Published in:
- 2022
- By:
- Publication type:
- Editorial
Erbliche Stoffwechselkrankheiten - eine Übersicht.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
Erbliche Stoffwechselkrankheiten.
- Published in:
- 2015
- By:
- Publication type:
- Editorial