Regional mapping of the locus for hexokinase-1 (HK1)

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

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·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

Genetic Dissection of Wheat Heterosis Identifies Candidate Genes in Biparental and Diverse Hybrid Populations.

Plant biotechnology journal·2026

Related Experiment Videos

Regional mapping of the locus for hexokinase-1 (HK1)

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.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

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.

Genetic Dissection of Wheat Heterosis Identifies Candidate Genes in Biparental and Diverse Hybrid Populations.

Related Experiment Videos

Regional mapping of the locus for hexokinase-1 (HK1)

Related Concept Videos

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