Molecular characterization of the H319Q galactosemia mutation

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

Human molecular genetics·2026

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

British poultry science·2026

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

Frontiers in cardiovascular medicine·2026

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

BMC genomics·2026

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Lipids·2026

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Molecular psychiatry·2026

Different properties of loss-of-function between variants in the LIPH gene responsible for autosomal recessive woolly hair and further characterization of C3orf52.

Journal of dermatological science·2026

Related Experiment Videos

Molecular characterization of the H319Q galactosemia mutation

Related Concept Videos

Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Different properties of loss-of-function between variants in the LIPH gene responsible for autosomal recessive woolly hair and further characterization of C3orf52.

Related Experiment Videos

Molecular characterization of the H319Q galactosemia mutation

Related Concept Videos

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