Found: 27
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Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
- Published in:
- American Journal of Hematology, 2015, v. 90, n. 12, p. E217, doi. 10.1002/ajh.24178
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- Publication type:
- Article
Chilblains outbreak during COVID‐19 pandemic: A Type‐I interferonopathy?
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 10, p. 1, doi. 10.1111/pai.13860
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- Publication type:
- Article
Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
- Published in:
- Alzheimer's Research & Therapy, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13195-021-00912-6
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- Publication type:
- Article
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
- Published in:
- Journal of Bone & Mineral Metabolism, 2023, v. 41, n. 5, p. 654, doi. 10.1007/s00774-023-01440-z
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- Publication type:
- Article
Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures.
- Published in:
- JBMR Plus, 2019, v. 3, n. 1, p. 29, doi. 10.1002/jbm4.10064
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- Publication type:
- Article
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00636
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- Publication type:
- Article
Cow's Milk-related Symptom Score (CoMiSS) values in presumed healthy European infants aged 6–12 months: a cross-sectional study.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 2, p. 707, doi. 10.1007/s00431-023-05334-0
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- Publication type:
- Article
The digital archive: an example of long-term preservation. The state of the Universities of Spain.
- Published in:
- JLIS.it: Italian Journal of Library, Archives & Information Science, 2016, v. 7, n. 3, p. 111, doi. 10.4403/jlis.it-11468
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- Publication type:
- Article
Mentoring in Group-Based Adolescent Girl Programs in Low- and Middle-Income Countries: Evidence-Informed Approaches.
- Published in:
- Journal of Youth Development, 2023, v. 18, n. 3, p. 42
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- Publication type:
- Article
Prone position: a technique to improve the hypoxemia in acute respiratory distress syndrome.
- Published in:
- 2014
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- Publication type:
- Journal Article
Decúbito prono: una técnica para mejorar la hipoxemia del síndrome de distrés respiratorio agudo.
- Published in:
- Metas de Enfermería, 2014, v. 17, n. 9, p. 11
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- Publication type:
- Article
Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40874-2
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- Publication type:
- Article
The Relationship Between a Baby's Age and Sleepiness in a Sample of Mothers.
- Published in:
- Frontiers in Psychology, 2021, v. 12, p. 1, doi. 10.3389/fpsyg.2021.694884
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- Publication type:
- Article
Implementation of an open-source robotic platform for SARS-CoV-2 testing by real-time RT-PCR.
- Published in:
- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0252509
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- Publication type:
- Article
Osteoporosis related to WNT1 variants: a not infrequent cause of osteoporosis.
- Published in:
- Osteoporosis International, 2023, v. 34, n. 2, p. 405, doi. 10.1007/s00198-022-06609-2
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- Publication type:
- Article
Calcific Periarthritis as the Only Clinical Manifestation of Hypophosphatasia in Middle-Aged Sisters.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 929, doi. 10.1002/jbmr.2110
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- Publication type:
- Article
Accurate Expression Profiling of Very Small Cell Populations.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0014418
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- Publication type:
- Article
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency.
- Published in:
- Pediatric Blood & Cancer, 2013, v. 60, n. 7, p. E29, doi. 10.1002/pbc.24499
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- Publication type:
- Article
TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome.
- Published in:
- Cell Death Discovery, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41420-019-0158-6
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- Publication type:
- Article
Filling the Gender Data Gap.
- Published in:
- 2016
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- Publication type:
- journal article
Early kinetics of donor-derived cell-free DNA after transplantation predicts renal graft recovery and long-term function.
- Published in:
- Nephrology Dialysis Transplantation, 2024, v. 39, n. 1, p. 114, doi. 10.1093/ndt/gfad120
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- Publication type:
- Article
Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 12, p. 3035, doi. 10.1002/art.39770
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- Publication type:
- Article
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 4, p. 1039, doi. 10.1002/art.39519
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- Publication type:
- Article
Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 104, doi. 10.4274/jcrpe.galenos.2019.2018.0263
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- Publication type:
- Article
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated postpolycythemia myelofibrosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0298-6
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- Publication type:
- Article
Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis.
- Published in:
- 2015
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- Publication type:
- journal article
Similarities and differences between the immunopathogenesis of COVID-19-related pediatric multisystem inflammatory syndrome and Kawasaki disease.
- Published in:
- 2021
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- Publication type:
- journal article