Found: 11
Select item for more details and to access through your institution.
The Journal of Applied Laboratory Medicine Special Issue on Molecular Diagnostics.
- Published in:
- Journal of Applied Laboratory Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1093/jalm/jfad100
- By:
- Publication type:
- Article
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5271, doi. 10.1093/hmg/ddu224
- By:
- Publication type:
- Article
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 24, p. 4967, doi. 10.1093/hmg/ddt344
- By:
- Publication type:
- Article
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 7, p. 1200, doi. 10.1093/hmg/ddp014
- By:
- Publication type:
- Article
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 373, doi. 10.1038/ejhg.2012.177
- By:
- Publication type:
- Article
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
- By:
- Publication type:
- Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
- By:
- Publication type:
- Article
Rapid Genome Sequencing in the Critically Ill.
- Published in:
- Clinical Chemistry, 2019, v. 65, n. 6, p. 723, doi. 10.1373/clinchem.2018.293506
- By:
- Publication type:
- Article
Kinesin family member 6 (kif6) is necessary for spine development in zebrafish.
- Published in:
- Developmental Dynamics, 2014, v. 243, n. 12, p. 1646, doi. 10.1002/dvdy.24208
- By:
- Publication type:
- Article
Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 100, doi. 10.1002/ajmg.a.63405
- By:
- Publication type:
- Article
Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1338022
- By:
- Publication type:
- Article