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Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Trans-Regulation of Alternative PD-L1 mRNA Processing by CDK12 in Non-Small-Cell Lung Cancer Cells.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 24, p. 2844, doi. 10.3390/cells12242844
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- Publication type:
- Article
Medical student and medical school teaching faculty perceptions of conflict of interest.
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- BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-017-2596-7
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- Publication type:
- Article
Three-Dimensional High-Resolution Temporal Bone Histopathology Identifies Areas of Vascular Vulnerability in the Inner Ear.
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- Audiology & Neurotology, 2022, v. 27, n. 3, p. 249, doi. 10.1159/000521397
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- Publication type:
- Article
A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37272-5
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- Publication type:
- Article
All exons are not created equal—exon vulnerability determines the effect of exonic mutations on splicing.
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- Nucleic Acids Research, 2024, v. 52, n. 8, p. 4588, doi. 10.1093/nar/gkae077
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- Publication type:
- Article
Recombinant Human Erythropoietin Is Associated with Increased Overall Survival in Patients with Multiple Myeloma.
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- Acta Haematologica, 2007, v. 117, n. 3, p. 162, doi. 10.1159/000097464
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- Publication type:
- Article
Predictive value of the Eustachian Tube Dysfunction Questionnaire‐7 for identifying obstructive Eustachian tube dysfunction: A systematic review.
- Published in:
- Laryngoscope Investigative Otolaryngology, 2021, v. 6, n. 4, p. 844, doi. 10.1002/lio2.606
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- Publication type:
- Article
Electrodiagnostic testing in acute facial palsy: Outcomes and comparison of methods.
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- Laryngoscope Investigative Otolaryngology, 2020, v. 5, n. 5, p. 928, doi. 10.1002/lio2.458
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- Publication type:
- Article
Changes in Greenland’s peripheral glaciers linked to the North Atlantic Oscillation.
- Published in:
- Nature Climate Change, 2018, v. 8, n. 1, p. 48, doi. 10.1038/s41558-017-0029-1
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- Publication type:
- Article
A regime shift in the Southeast Greenland marine ecosystem.
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- Global Change Biology, 2023, v. 29, n. 3, p. 668, doi. 10.1111/gcb.16494
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- Publication type:
- Article
Study protocol for RUFUS—A randomized mixed methods pilot clinical trial investigating the relevance and feasibility of rumination-focused cognitive behavioral therapy in the treatment of patients with emergent psychosis spectrum disorders.
- Published in:
- PLoS ONE, 2024, v. 19, n. 1, p. 1, doi. 10.1371/journal.pone.0297118
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- Publication type:
- Article
Identification of Novel and Known Mutations in the Genes for Keratin 5 and 14 in Danish Patients with Epidermolysis Bullosa Simplex: Correlation Between Genotype and Phenotype.
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- Journal of Investigative Dermatology, 1999, v. 112, n. 2, p. 184, doi. 10.1046/j.1523-1747.1999.00495.x
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- Publication type:
- Article
Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
- Published in:
- 2008
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- Publication type:
- journal article
Otolith Membrane Herniation, not Semicircular Canal Duct Dilation, Is Associated with Decreased Caloric Responses in Ménière's Disease.
- Published in:
- JARO - Journal of the Association for Research in Otolaryngology, 2023, v. 24, n. 1, p. 95, doi. 10.1007/s10162-022-00883-x
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- Publication type:
- Article
Association Between Retinal Pathology and Hearing in Older Adults.
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- OTO Open: The Official Open Access Journal of the American Academy of Otolaryngology Head & Neck Surgery Foundation, 2023, v. 7, n. 4, p. 1, doi. 10.1002/oto2.99
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- Publication type:
- Article
Changing the medical school curriculum to improve patient access to primary care.
- Published in:
- 1991
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- Publication type:
- journal article
Early Holocene palaeoceanographic and glaciological changes in southeast Greenland.
- Published in:
- Holocene, 2022, v. 32, n. 6, p. 501, doi. 10.1177/09596836221080758
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- Publication type:
- Article
Glacier and ocean variability in Ata Sund, west Greenland, since 1400 CE.
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- Holocene, 2020, v. 30, n. 12, p. 1681, doi. 10.1177/0959683620950431
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- Publication type:
- Article
A 2000-year record of ocean influence on Jakobshavn Isbræ calving activity, based on marine sediment cores.
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- Holocene, 2018, v. 28, n. 11, p. 1731, doi. 10.1177/0959683618788701
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- Publication type:
- Article
The deglaciation of coastal areas of southeast Greenland.
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- Holocene, 2018, v. 28, n. 9, p. 1535, doi. 10.1177/0959683618777067
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- Publication type:
- Article
Interaction between subsurface ocean waters and calving of the Jakobshavn Isbræ during the late Holocene.
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- Holocene, 2011, v. 21, n. 2, p. 211, doi. 10.1177/0959683610378877
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- Publication type:
- Article
Severe mucositis is associated with reduced survival after autologous stem cell transplantation for lymphoid malignancies.
- Published in:
- British Journal of Haematology, 2006, v. 135, n. 3, p. 374, doi. 10.1111/j.1365-2141.2006.06323.x
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- Publication type:
- Article
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.
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- Prenatal Diagnosis, 2005, v. 25, n. 1, p. 60, doi. 10.1002/pd.983
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- Publication type:
- Article
Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51056-5
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- Publication type:
- Article
Association of socioeconomic status with long-term outcomes in 1-year survivors of allogeneic hematopoietic cell transplantation.
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- Bone Marrow Transplantation, 2015, v. 50, n. 10, p. 1326, doi. 10.1038/bmt.2015.166
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- Publication type:
- Article
Risk factors for vancomycin-resistant enterococcus bacteremia and its influence on survival after allogeneic hematopoietic cell transplantation.
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- Bone Marrow Transplantation, 2014, v. 49, n. 10, p. 1310, doi. 10.1038/bmt.2014.150
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- Publication type:
- Article
Long-term follow-up of a prospective randomized trial comparing CYA and MTX with CYA and mycophenolate mofetil for GVHD prophylaxis in myeloablative sibling donor hematopoietic cell transplantation.
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- Bone Marrow Transplantation, 2013, v. 48, n. 12, p. 1578, doi. 10.1038/bmt.2013.89
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- Publication type:
- Article
Intravenous compared with oral busulfan as preparation for allogeneic hematopoietic progenitor cell transplantation for AML and MDS.
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- Bone Marrow Transplantation, 2012, v. 47, n. 5, p. 633, doi. 10.1038/bmt.2011.167
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- Publication type:
- Article
Fludarabine as a risk factor for poor stem cell harvest, treatment-related MDS and AML in follicular lymphoma patients after autologous hematopoietic cell transplantation.
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- Bone Marrow Transplantation, 2012, v. 47, n. 4, p. 488, doi. 10.1038/bmt.2011.109
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- Publication type:
- Article
Etoposide plus G-CSF priming compared with G-CSF alone in patients with lymphoma improves mobilization without an increased risk of secondary myelodysplasia and leukemia.
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- Bone Marrow Transplantation, 2012, v. 47, n. 2, p. 231, doi. 10.1038/bmt.2011.73
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- Publication type:
- Article
Apheresis days required for harvesting CD34+ cells predicts hematopoietic recovery and survival following autologous transplantation.
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- Bone Marrow Transplantation, 2011, v. 46, n. 12, p. 1519, doi. 10.1038/bmt.2010.336
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- Publication type:
- Article
BU- vs TBI-based conditioning for adult patients with ALL.
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- Bone Marrow Transplantation, 2011, v. 46, n. 11, p. 1413, doi. 10.1038/bmt.2010.314
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- Publication type:
- Article
Comparison of donor chimerism following myeloablative and nonmyeloablative allogeneic hematopoietic SCT.
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- Bone Marrow Transplantation, 2011, v. 46, n. 1, p. 84, doi. 10.1038/bmt.2010.55
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- Publication type:
- Article
Are backup BM harvests worthwhile in unrelated donor allogeneic transplants?
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- Bone Marrow Transplantation, 2010, v. 45, n. 1, p. 49, doi. 10.1038/bmt.2009.95
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- Publication type:
- Article
Elevated pretransplant serum ferritin is associated with inferior survival following nonmyeloablative allogeneic transplantation.
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- Bone Marrow Transplantation, 2009, v. 44, n. 11, p. 767, doi. 10.1038/bmt.2009.77
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- Publication type:
- Article
A randomized trial of etoposide and G-CSF with or without rituximab for PBSC mobilization in B-cell non-Hodgkin's lymphoma.
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- Bone Marrow Transplantation, 2009, v. 43, n. 2, p. 101, doi. 10.1038/bmt.2008.306
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- Publication type:
- Article
400 cGy TBI with fludarabine for reduced-intensity conditioning allogeneic hematopoietic stem cell transplantation.
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- Bone Marrow Transplantation, 2008, v. 42, n. 11, p. 715, doi. 10.1038/bmt.2008.248
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- Publication type:
- Article
Influence of killer immunoglobulin-like receptor/HLA ligand matching on achievement of T-cell complete donor chimerism in related donor nonmyeloablative allogeneic hematopoietic stem cell transplantation.
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- Bone Marrow Transplantation, 2008, v. 41, n. 8, p. 709, doi. 10.1038/sj.bmt.1705954
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- Publication type:
- Article
Elevated lactate dehydrogenase is an adverse predictor of outcome in HLA-matched sibling bone marrow transplant for acute myelogenous leukemia.
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- Bone Marrow Transplantation, 2007, v. 40, n. 8, p. 753, doi. 10.1038/sj.bmt.1705811
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- Publication type:
- Article
Patients mobilizing large numbers of CD34+ cells (‘super mobilizers’) have improved survival in autologous stem cell transplantation for lymphoid malignancies.
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- Bone Marrow Transplantation, 2007, v. 40, n. 5, p. 437, doi. 10.1038/sj.bmt.1705763
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- Publication type:
- Article
Autologous hematopoietic stem cell transplantation in peripheral T-cell lymphoma using a uniform high-dose regimen.
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- Bone Marrow Transplantation, 2007, v. 40, n. 3, p. 239, doi. 10.1038/sj.bmt.1705712
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- Publication type:
- Article
Survival of AML patients receiving HLA-matched sibling donor allogeneic bone marrow transplantation correlates with HLA-Cw ligand groups for killer immunoglobulin-like receptors.
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- Bone Marrow Transplantation, 2007, v. 39, n. 7, p. 417, doi. 10.1038/sj.bmt.1705609
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- Publication type:
- Article
Does Cimetidine Improve Prospects for Cancer Patients?
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- Digestion, 1999, v. 60, n. 5, p. 415, doi. 10.1159/000007686
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- Publication type:
- Article
Rapid Holocene climate changes in the North Atlantic: evidence from lake sediments from the Faroe Islands.
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- Boreas, 2006, v. 35, n. 1, p. 23, doi. 10.1080/03009480500359228
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- Publication type:
- Article
Early Mitoxantrone-Induced Cardiotoxicity Detected in Secondary Progressive Multiple Sclerosis.
- Published in:
- Clinical Medicine Insights: Therapeutics, 2011, n. 3, p. 449, doi. 10.4137/CMT.S7586
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- Publication type:
- Article
Variability and seasonality of North Atlantic climate during the early Holocene: evidence from Faroe Island lake sediments.
- Published in:
- Holocene, 2008, v. 18, n. 6, p. 851, doi. 10.1177/0959683608093521
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- Publication type:
- Article
Clinical and Molecular Evidence of Abnormal Processing and Trafficking of the Vasopressin Preprohormone in a Large Kindred with Familial Neurohypophyseal Diabetes Insipidus due to A Signal Peptide Mutation.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 8, p. 2933, doi. 10.1210/jcem.84.8.5869
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- Publication type:
- Article
Investigating the interaction between ocean current variability and glacier activity by Thrym glacier, SE-Greenland.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 5730
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- Publication type:
- Article
Investigating ice-ocean interactions in Kangerdlugssuaq Fjord over the past ~ 600 years through proxy reconstructions.
- Published in:
- Geophysical Research Abstracts, 2018, v. 20, p. 4169
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- Publication type:
- Article