Found: 3
Select item for more details and to access through your institution.
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Prospective Investigation of Optical Genome Mapping for Prenatal Genetic Diagnosis.
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 6, p. 820, doi. 10.1093/clinchem/hvae031
- By:
- Publication type:
- Article
Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2021.791869
- By:
- Publication type:
- Article