Related Experiment Videos
An overview of molecular diagnosis of steroid 21-hydroxylase deficiency
1Department of Pediatrics, University of Michigan, Ann Arbor 48109-0602, USA.
The Journal of Molecular Diagnostics : JMD
|June 8, 2001
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Genotyping of apolipoprotein e.
Methods in molecular medicine·2011
SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis.
Endocrine research·2003
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
Genetics in medicine : official journal of the American College of Medical Genetics·2001
Evaluation of chimerism in DNA samples by PCR amplification of D1S80 with detection by capillary electrophoresis.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology·2000
The ten-year evolution of Sherloc, a points-based framework for genetic variant classification.
The Journal of molecular diagnostics : JMD·2026
Parallel Analysis of Repeat Expansions: An Updated Clinical Nanopore Cas9-Targeted Sequencing Workflow for Nanopore R10 Flow Cells.
The Journal of molecular diagnostics : JMD·2026
The Effect of Unique Molecular Identifier Family Size Using Tumor-Informed Circulating Tumor DNA Analysis in Childhood Cancers.
The Journal of molecular diagnostics : JMD·2026
Long-Read Sequencing Resolves Complex CYP21A2 Variants and Identifies 2+0 Carriers in 21-Hydroxylase Deficiency.
The Journal of molecular diagnostics : JMD·2026
Toward a Robust Cell-free DNA Isolation Protocol for Next-Generation Sequencing Applications in a Clinical Molecular Diagnostics Setting.
The Journal of molecular diagnostics : JMD·2026
Batch Effects in Tumor-Only Next-Generation Sequencing Panel Sequencing and Implications for Copy Number Variant Detection.
The Journal of molecular diagnostics : JMD·2026
Equidistance between primary sensory-motor landmarks shapes functional specialisation in the human brain.
The Journal of neuroscience : the official journal of the Society for Neuroscience·2026
Single-cell transcriptomic and epigenomic analysis reveals X-linked sex differences in aging mouse hypothalamus.
bioRxiv : the preprint server for biology·2026