Found: 38
Select item for more details and to access through your institution.
Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
- By:
- Publication type:
- Article
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1654, doi. 10.1093/hmg/ddt015
- By:
- Publication type:
- Article
Characterization of a recurrent 15q24 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 567, doi. 10.1093/hmg/ddm016
- By:
- Publication type:
- Article
Physics-based modeling of crowd evacuation in the Unity game engine.
- Published in:
- International Journal of Modeling, Simulation & Scientific Computing, 2018, v. 9, n. 4, p. N.PAG, doi. 10.1142/S1793962318500290
- By:
- Publication type:
- Article
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1085, doi. 10.1038/ejhg.2012.306
- By:
- Publication type:
- Article
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166
- By:
- Publication type:
- Article
Experimental field evidence shows milkweed contaminated with a common neonicotinoid decreases larval survival of monarch butterflies.
- Published in:
- Journal of Animal Ecology, 2021, v. 90, n. 7, p. 1742, doi. 10.1111/1365-2656.13492
- By:
- Publication type:
- Article
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01150
- By:
- Publication type:
- Article
A 15q13.3 microdeletion segregating with autism.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 687, doi. 10.1038/ejhg.2008.228
- By:
- Publication type:
- Article
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 395, doi. 10.1038/sj.ejhg.5201975
- By:
- Publication type:
- Article
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.
- Published in:
- 2007
- By:
- Publication type:
- Proceeding
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 308, doi. 10.1038/ng.2539
- By:
- Publication type:
- Article
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
- Published in:
- Nature Genetics, 2006, v. 38, n. 9, p. 999, doi. 10.1038/ng1853
- By:
- Publication type:
- Article
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 9, p. 1038, doi. 10.1038/ng1862
- By:
- Publication type:
- Article
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01843-5
- By:
- Publication type:
- Article
Activation of an exonic splice-donor site in exon 30 of CDK5 RAP2 in a patient with severe microcephaly and pigmentary abnormalities.
- Published in:
- Clinical Case Reports, 2016, v. 4, n. 10, p. 952, doi. 10.1002/ccr3.663
- By:
- Publication type:
- Article
Genomic Imbalances Are Confined to Non-Proliferating Cells in Paediatric Patients with Acute Myeloid Leukaemia and a Normal or Incomplete Karyotype.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020607
- By:
- Publication type:
- Article
Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL.
- Published in:
- British Journal of Haematology, 2018, v. 182, n. 3, p. 412, doi. 10.1111/bjh.15406
- By:
- Publication type:
- Article
Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association.
- Published in:
- 2018
- By:
- Publication type:
- case study
Peripheral Primitive Neuroectodermal Tumor and Neurofibromatosis Type 1 in an Adolescent Male.
- Published in:
- 2016
- By:
- Publication type:
- case study
An approach to fertility preservation in prepubertal and postpubertal females: A critical review of current literature.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 6, p. 935, doi. 10.1002/pbc.25440
- By:
- Publication type:
- Article
Constructing and evaluating a continent‐wide migratory songbird network across the annual cycle.
- Published in:
- Ecological Monographs, 2018, v. 88, n. 3, p. 445, doi. 10.1002/ecm.1298
- By:
- Publication type:
- Article
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2010, v. 136, n. 12, p. 1869, doi. 10.1007/s00432-010-0846-3
- By:
- Publication type:
- Article
Malignant Peripheral Nerve Sheath Tumors—A Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management.
- Published in:
- Children, 2022, v. 9, n. 1, p. 38, doi. 10.3390/children9010038
- By:
- Publication type:
- Article
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85354-8
- By:
- Publication type:
- Article
Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Popular press portrayal of issues surrounding free‐roaming domestic cats Felis catus.
- Published in:
- People & Nature, 2022, v. 4, n. 1, p. 143, doi. 10.1002/pan3.10269
- By:
- Publication type:
- Article
SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 11, p. 3455, doi. 10.1093/nar/gki643
- By:
- Publication type:
- Article
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
- Published in:
- Cancers, 2019, v. 11, n. 12, p. 1895, doi. 10.3390/cancers11121895
- By:
- Publication type:
- Article
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 732, doi. 10.1002/humu.23010
- By:
- Publication type:
- Article
Nonbreeding season movements of a migratory songbird are related to declines in resource availability.
- Published in:
- Auk: Ornithological Advances, 2019, v. 136, n. 3, p. N.PAG, doi. 10.1093/auk/ukz028
- By:
- Publication type:
- Article
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6146, doi. 10.1093/hmg/ddv331
- By:
- Publication type:
- Article
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3732, doi. 10.1093/hmg/ddv117
- By:
- Publication type:
- Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
- By:
- Publication type:
- Article
A Candidate Gene for Mild Mental Handicap at the Fraxe Fragile Site.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 2, p. 275, doi. 10.1093/hmg/5.2.275
- By:
- Publication type:
- Article
The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 12, p. 2115
- By:
- Publication type:
- Article
Mutations of NFKBIA, encoding IκBα, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated cases.
- Published in:
- International Journal of Cancer, 2009, v. 125, n. 6, p. 1334, doi. 10.1002/ijc.24502
- By:
- Publication type:
- Article