2+0 CYP21A2 deletion carrier — a limitation of the genetic testing and counseling: A case report

Concordance of copy number abnormality detection using SNP arrays and Multiplex Ligation-dependent Probe Amplification (MLPA) in acute lymphoblastic leukaemia

(2020) Matthew Bashton et al.   Scientific Reports

Ionizing radiation, genotoxic stress, and mitochondrial DNA copy-number variation in Caenorhabditis elegans: droplet digital PCR analysis

(2020) Erica Maremonti et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Congenital Adrenal Hyperplasia

(2017) Selma Feldman Witchel   Journal of Pediatric and Adolescent Gynecology

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

(2017) Xiaoxu Yang et al.   Scientific Reports

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of theSMN1gene

(2013) L. Alías et al.   CLINICAL GENETICS

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Genetics of congenital adrenal hyperplasia

(2009) Nils Krone et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

(2008) Silvia Parajes et al.   PLoS One