Congenital defects, folic-acid, and homoeobox genes

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Lancet (London, England)·2026

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Clinical genetics·2026

Age and sex: dual drivers remodeling the anti-tumor immune microenvironment and shaping personalized immuno-oncology.

Frontiers in immunology·2026

Effectiveness of GLP-1 receptor agonists to prevent obstructive sleep apnea in patients with type 2 diabetes: active comparator, new user cohort study.

American journal of respiratory and critical care medicine·2026

Long-Term Association Between GLP-1 Receptor Agonist Use and Incident Pancreatic Cancer: A Propensity Score-Matched Retrospective Cohort Study Using the TriNetX Network.

Journal of gastrointestinal cancer·2026

Dietary composition and metabolic stress differentially affect the ovarian microenvironment in mice.

GeroScience·2026

Healthy lifestyle and cancer risk: a pan-cancer analysis in the UK Biobank prospective cohort.

British journal of cancer·2026

Related Experiment Videos

Congenital defects, folic-acid, and homoeobox genes

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Age and sex: dual drivers remodeling the anti-tumor immune microenvironment and shaping personalized immuno-oncology.

Effectiveness of GLP-1 receptor agonists to prevent obstructive sleep apnea in patients with type 2 diabetes: active comparator, new user cohort study.

Long-Term Association Between GLP-1 Receptor Agonist Use and Incident Pancreatic Cancer: A Propensity Score-Matched Retrospective Cohort Study Using the TriNetX Network.

Dietary composition and metabolic stress differentially affect the ovarian microenvironment in mice.

Healthy lifestyle and cancer risk: a pan-cancer analysis in the UK Biobank prospective cohort.

Related Experiment Videos

Congenital defects, folic-acid, and homoeobox genes

Related Concept Videos

Related Articles