Editor's comment: colon cancer carrier screening enters the genetic testing arena

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.

Cells·2021

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Molecular cytogenetics·2012

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Molecular genetics and metabolism·2010

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

PloS one·2010

Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations.

Fertility and sterility·2008

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

Pediatric research·2005

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

Genetic testing·2008

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Genetic testing·2008

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

Genetic testing·2008

The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer.

Genetic testing·2008

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.

Genetic testing·2008

Prevalence of prothrombotic polymorphisms in Greece.

Genetic testing·2008

Uncovering the Metabolic Origins of Polycystic Ovary Syndrome.

Cureus·2026

Role of health digital twins in oncology drug development - a primer.

Frontiers in oncology·2026

Research progress and clinical translation prospects of the urinary tract microbiome in prostate cancer.

Frontiers in immunology·2026

Therapeutic regulation of gut microbiota in gastric cancer: mechanisms, strategies, and clinical prospects.

Frontiers in microbiology·2026

Integrative Transcriptomic Analysis and Functional Validation Implicate GPT2 in Glycolytic Regulation in Polycystic Ovary Syndrome.

Food science & nutrition·2026

Operationalizing patient flow in high-complexity service lines: a health system perspective using oncology care.

Frontiers in health services·2026

Related Experiment Videos

Editor's comment: colon cancer carrier screening enters the genetic testing arena

Related Concept Videos

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Infertility and abnormal cervical mucus in two sisters who are compound heterozygotes for the cystic fibrosis (CF) DeltaF508 and R117H/7T mutations.

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.

Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications.

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

The polymorphisms on Igkappa gene are related to susceptibility of breast cancer and gastric cancer.

Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.

Prevalence of prothrombotic polymorphisms in Greece.

Uncovering the Metabolic Origins of Polycystic Ovary Syndrome.

Role of health digital twins in oncology drug development - a primer.

Research progress and clinical translation prospects of the urinary tract microbiome in prostate cancer.

Therapeutic regulation of gut microbiota in gastric cancer: mechanisms, strategies, and clinical prospects.

Integrative Transcriptomic Analysis and Functional Validation Implicate GPT2 in Glycolytic Regulation in Polycystic Ovary Syndrome.

Operationalizing patient flow in high-complexity service lines: a health system perspective using oncology care.

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Editor's comment: colon cancer carrier screening enters the genetic testing arena

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