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Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Temporary cardiac pacing via the oesophagus.
- Published in:
- 1982
- By:
- Publication type:
- journal article
Growth of neonatal islet transplants in the spontaneously diabetic BB/Wor rat.
- Published in:
- 1992
- By:
- Publication type:
- journal article
VCAT: an integrated variant function annotation tools.
- Published in:
- Human Genetics, 2024, v. 143, n. 11, p. 1311, doi. 10.1007/s00439-024-02699-6
- By:
- Publication type:
- Article
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
- Published in:
- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0135-9
- By:
- Publication type:
- Article
The NF7 somatic mutational landscape in sporadic human cancers.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0109-3
- By:
- Publication type:
- Article
In silico prioritization and further functional characterization of SPINK1 intronic variants.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0103-9
- By:
- Publication type:
- Article
Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0047-x
- By:
- Publication type:
- Article
Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0043-1
- By:
- Publication type:
- Article
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0034-2
- By:
- Publication type:
- Article
Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.
- Published in:
- Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0025-3
- By:
- Publication type:
- Article
Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.
- Published in:
- Human Genomics, 2014, v. 8, n. 1, p. 1, doi. 10.1186/1479-7364-8-11
- By:
- Publication type:
- Article
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.
- Published in:
- Human Genomics, 2013, v. 7, n. 1, p. 1, doi. 10.1186/1479-7364-7-18
- By:
- Publication type:
- Article
Genetic tests obtainable through pharmacies: the good, the bad, and the ugly.
- Published in:
- Human Genomics, 2013, v. 7, n. 1, p. 1, doi. 10.1186/1479-7364-7-17
- By:
- Publication type:
- Article
A new era in the discovery of de novomutations underlying human genetic disease.
- Published in:
- 2012
- By:
- Publication type:
- Editorial
An emerging role for microRNAs in NF1 tumorigenesis.
- Published in:
- Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-23
- By:
- Publication type:
- Article
Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1.
- Published in:
- Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-18
- By:
- Publication type:
- Article
‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care.
- Published in:
- Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-11
- By:
- Publication type:
- Article
Human genetics and genomics a decade after the release of the draft sequence of the human genome.
- Published in:
- Human Genomics, 2011, v. 5, n. 6, p. 577, doi. 10.1186/1479-7364-5-6-577
- By:
- Publication type:
- Article
Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis.
- Published in:
- Human Genomics, 2011, v. 5, n. 6, p. 623, doi. 10.1186/1479-7364-5-6-623
- By:
- Publication type:
- Article
NET INVESTMENT IN AGRICULTURAL TRACTORS.
- Published in:
- Journal of Agricultural Economics, 1994, v. 45, n. 3, p. 339, doi. 10.1111/j.1477-9552.1994.tb00408.x
- By:
- Publication type:
- Article
Closed vessel burning rate measurements of composite propellants using microwave interferometry.
- Published in:
- Propellants, Explosives, Pyrotechnics, 2024, v. 49, n. 8, p. 1, doi. 10.1002/prep.202400072
- By:
- Publication type:
- Article
Consumption of energy drinks is associated with depression, anxiety, and stress in young adult males: Evidence from a longitudinal cohort study.
- Published in:
- Depression & Anxiety (1091-4269), 2020, v. 37, n. 11, p. 1089, doi. 10.1002/da.23090
- By:
- Publication type:
- Article
Prolonged implantable electrocardiographic monitoring indicates a high rate of misdiagnosis of epilepsy—REVISE study.
- Published in:
- EP: Europace, 2012, v. 14, n. 11, p. 1653, doi. 10.1093/europace/eus185
- By:
- Publication type:
- Article
Quantitation of the Schmidt-Lanterman incisures in juvenile, adult, remyelinated and regenerated fibres of the chicken sciatic nerve.
- Published in:
- Acta Neuropathologica, 1984, v. 64, n. 3, p. 251, doi. 10.1007/BF00688116
- By:
- Publication type:
- Article
Does cervical preparation before outpatient hysteroscopy reduce women's pain experience? A systematic review.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2011, v. 118, n. 11, p. 1292, doi. 10.1111/j.1471-0528.2011.03046.x
- By:
- Publication type:
- Article
Vaginoscopic approach to outpatient hysteroscopy: a systematic review of the effect on pain.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Vaginoscopic approach to outpatient hysteroscopy: a systematic review of the effect on pain.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2010, v. 117, n. 5, p. 532, doi. 10.1111/j.1471-0528.2010.02503.x
- By:
- Publication type:
- Article
Population‐based study of congenital heart disease and revisits after pediatric tonsillectomy.
- Published in:
- Laryngoscope Investigative Otolaryngology, 2019, v. 4, n. 1, p. 30, doi. 10.1002/lio2.243
- By:
- Publication type:
- Article
Impact of coblation versus electrocautery on acute post‐operative outcomes in pediatric tonsillectomy.
- Published in:
- Laryngoscope Investigative Otolaryngology, 2019, v. 4, n. 1, p. 154, doi. 10.1002/lio2.212
- By:
- Publication type:
- Article
Relationship Quality in the Context of Cyber Dating Abuse: The Role of Attachment.
- Published in:
- Journal of Family Issues, 2020, v. 41, n. 6, p. 739, doi. 10.1177/0192513X19881674
- By:
- Publication type:
- Article
Regenerative capacity of human satellite cells: the mitotic clock in cell transplantation.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Risk Factors for SARS-CoV-2 Infection and Severe Outcomes Among People With Human Immunodeficiency Virus: Cohort Study.
- Published in:
- Open Forum Infectious Diseases, 2023, v. 10, n. 8, p. 1, doi. 10.1093/ofid/ofad400
- By:
- Publication type:
- Article
Analyzing an Emerging Pandemic on Twitter: Monkeypox.
- Published in:
- Open Forum Infectious Diseases, 2023, v. 10, n. 4, p. 1, doi. 10.1093/ofid/ofad142
- By:
- Publication type:
- Article
Psychobiological mechanisms of resilience: Relevance to prevention and treatment of stress-related psychopathology.
- Published in:
- Development & Psychopathology, 2007, v. 19, n. 3, p. 889, doi. 10.1017/S0954579407000430
- By:
- Publication type:
- Article
A systematic review and mixed treatment comparison of pharmacological interventions for the treatment of obesity.
- Published in:
- Obesity Reviews, 2012, v. 13, n. 6, p. 483, doi. 10.1111/j.1467-789X.2011.00981.x
- By:
- Publication type:
- Article
Hierarchical regulation of pelagic invertebrates in lakes of the northern Great Plains: a novel model for interdecadal effects of future climate change on lakes.
- Published in:
- Global Change Biology, 2011, v. 17, n. 1, p. 172, doi. 10.1111/j.1365-2486.2010.02291.x
- By:
- Publication type:
- Article
The effect of CFTR modulators on structural lung disease in cystic fibrosis.
- Published in:
- Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1147348
- By:
- Publication type:
- Article
Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.701652
- By:
- Publication type:
- Article
DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.671866
- By:
- Publication type:
- Article
Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.640859
- By:
- Publication type:
- Article
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.607838
- By:
- Publication type:
- Article
Audit in clinical practice: evaluating use of a nutrition screening tool developed for trauma nurses.
- Published in:
- 1998
- By:
- Publication type:
- Journal Article
Audit in clinical practice: evaluating use of a nutrition screening tool developed for trauma nurses.
- Published in:
- Journal of Human Nutrition & Dietetics, 1998, v. 11, n. 5, p. 403, doi. 10.1046/j.1365-277X.1998.00125.x
- By:
- Publication type:
- Article
Immune responses of rats to live Vibrio cholerae: secretion of antibodies in bile.
- Published in:
- Parasite Immunology, 1981, v. 3, n. 2, p. 127, doi. 10.1111/j.1365-3024.1981.tb00390.x
- By:
- Publication type:
- Article
RASSF2 associates with and stabilizes the proapoptotic kinase MST2.
- Published in:
- Oncogene, 2009, v. 28, n. 33, p. 2988, doi. 10.1038/onc.2009.152
- By:
- Publication type:
- Article
Epigenetic regulation of the ras effector/tumour suppressor RASSF2 in breast and lung cancer.
- Published in:
- Oncogene, 2008, v. 27, n. 12, p. 1805, doi. 10.1038/sj.onc.1210805
- By:
- Publication type:
- Article
Epigenetic silencing of CXCL12 increases the metastatic potential of mammary carcinoma cells.
- Published in:
- Oncogene, 2008, v. 27, n. 10, p. 1461, doi. 10.1038/sj.onc.1210751
- By:
- Publication type:
- Article
Evaluation of the 3p21.3 tumour-suppressor gene cluster.
- Published in:
- Oncogene, 2007, v. 26, n. 52, p. 7283, doi. 10.1038/sj.onc.1210547
- By:
- Publication type:
- Article
The hyperactive Sleeping Beauty transposase SB100X improves the genetic modification of T cells to express a chimeric antigen receptor.
- Published in:
- Gene Therapy, 2011, v. 18, n. 9, p. 849, doi. 10.1038/gt.2011.40
- By:
- Publication type:
- Article