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Factors that influence genetic counselors' participation in research.
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 351, doi. 10.1002/jgc4.1642
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- Publication type:
- Article
Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 479, doi. 10.1002/jgc4.1514
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- Publication type:
- Article
Computational pharmacogenotype extraction from clinical next-generation sequencing.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1199741
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- Publication type:
- Article
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 7, p. 516, doi. 10.1038/jhg.2011.51
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- Publication type:
- Article
An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2357, doi. 10.1002/ajmg.a.61353
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- Publication type:
- Article
4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2540, doi. 10.1002/ajmg.a.37796
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- Publication type:
- Article
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 694, doi. 10.1002/ajmg.a.37469
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- Publication type:
- Article
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
- Published in:
- Human Genetics, 2009, v. 126, n. 3, p. 411, doi. 10.1007/s00439-009-0679-9
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- Publication type:
- Article
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- 2011
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- Publication type:
- Correction Notice
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 409, doi. 10.1038/ejhg.2010.195
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- Publication type:
- Article
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
- Published in:
- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0249695
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- Publication type:
- Article
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 1, p. 78, doi. 10.1165/rcmb.2023-0156le
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- Publication type:
- Article
A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect.
- Published in:
- 2022
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- Publication type:
- Case Study
Development of a Multifaceted Program for Pharmacogenetics Adoption at an Academic Medical Center: Practical Considerations and Lessons Learned.
- Published in:
- Clinical Pharmacology & Therapeutics, 2024, v. 116, n. 4, p. 914, doi. 10.1002/cpt.3402
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- Publication type:
- Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Published in:
- Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
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- Publication type:
- Article
Input DNA Ratio Determines Copy Number of The 33 kb Factor IX Gene on De Novo Human Artificial Chromosomes.
- Published in:
- Molecular Therapy, 2008, v. 16, n. 2, p. 315, doi. 10.1038/sj.mt.6300361
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- Publication type:
- Article
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1465, doi. 10.1002/ajmg.a.33935
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- Publication type:
- Article
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003797
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- Publication type:
- Article
Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 3, p. 304, doi. 10.1002/pd.6529
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- Publication type:
- Article
Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
- Published in:
- 2018
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- Publication type:
- journal article
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions.
- Published in:
- 2018
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- Publication type:
- journal article
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.
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- 2016
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- Publication type:
- journal article
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.
- Published in:
- 2016
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- Publication type:
- journal article
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
- Published in:
- 2016
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- Publication type:
- journal article
Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 4, p. 351, doi. 10.1002/pd.3861
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- Publication type:
- Article
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
- Published in:
- 2012
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- Publication type:
- journal article
Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 1, p. 10, doi. 10.1002/pd.2855
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- Publication type:
- Article
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 943, doi. 10.1002/pd.2087
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- Publication type:
- Article
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
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- Publication type:
- Article
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 669, doi. 10.1002/humu.23207
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- Publication type:
- Article
High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining.
- Published in:
- BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1383-x
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- Publication type:
- Article
Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.
- Published in:
- Cytogenetic & Genome Research, 2022, v. 162, n. 1/2, p. 40, doi. 10.1159/000521297
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- Publication type:
- Article
Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 11/12, p. 671, doi. 10.1159/000512898
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- Publication type:
- Article
Identifying and genotyping transgene integration loci.
- Published in:
- Transgenic Research, 2008, v. 17, n. 5, p. 979
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- Publication type:
- Article
Mechanisms for Complex Chromosomal Insertions.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 11, p. 1, doi. 10.1371/journal.pgen.1006446
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- Publication type:
- Article