Found: 13
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Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A Case Study from the Past: "The RGC-5 vs. the 661W Cell Line: Similarities, Differences and Contradictions—Are They Really the Same?".
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13801, doi. 10.3390/ijms241813801
- By:
- Publication type:
- Article
Pre‐ and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2680, doi. 10.1002/ajmg.a.61804
- By:
- Publication type:
- Article
First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The impact of an audience response system on a summative assessment, a controlled field study.
- Published in:
- BMC Medical Education, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12909-020-02130-4
- By:
- Publication type:
- Article
Integration moderner Lehrmethoden in den Humangenetik-Unterricht in Tübingen.
- Published in:
- Medizinische Genetik, 2019, v. 31, n. 3, p. 313, doi. 10.1007/s11825-019-00250-x
- By:
- Publication type:
- Article
Generation of iPSCs by Nonintegrative RNA-Based Reprogramming Techniques: Benefits of Self-Replicating RNA versus Synthetic mRNA.
- Published in:
- Stem Cells International, 2019, p. 1, doi. 10.1155/2019/7641767
- By:
- Publication type:
- Article
Discordance between ultrasound and cell free DNA screening for monosomy X.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Genome-wide UPD screening in patients with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1233, doi. 10.1038/ejhg.2014.63
- By:
- Publication type:
- Article
UPDtool: a tool for detection of iso- and heterodisomy in parent–child trios using SNP microarrays.
- Published in:
- Bioinformatics, 2013, v. 29, n. 12, p. 1562, doi. 10.1093/bioinformatics/btt174
- By:
- Publication type:
- Article
Amniotic bands as a cause of congenital anterior staphyloma.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2013, v. 251, n. 3, p. 959, doi. 10.1007/s00417-012-2197-z
- By:
- Publication type:
- Article
Characterisation of the Cell Line HC-AFW1 Derived from a Pediatric Hepatocellular Carcinoma.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0038223
- By:
- Publication type:
- Article
A rapid microarray based whole genome analysis for detection of uniparental disomy.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 153, doi. 10.1002/humu.20198
- By:
- Publication type:
- Article