Exclusion map of the gene for neuraminidase from 10(pter-->p15.1)

[Epicardial atrial pacing using an active fixation bipolar endocardial lead in children].

Kyobu geka. The Japanese journal of thoracic surgery·2007

[Delayed onset malignant hyperthermia after a closure of ventricular septal defect].

Kyobu geka. The Japanese journal of thoracic surgery·2005

[Asplenia syndrome with total anomalous pulmonary venous connection].

Kyobu geka. The Japanese journal of thoracic surgery·2005

Multicentre study of fetal cardiac time intervals using magnetocardiography.

BJOG : an international journal of obstetrics and gynaecology·2002

Signal-averaged electrocardiogram in children and adolescents with insulin-dependent diabetes mellitus.

Acta paediatrica (Oslo, Norway : 1992)·2002

Screening for 22q11 deletions in a schizophrenia population.

Schizophrenia research·2001

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Frontiers in medicine·2026

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

International urology and nephrology·2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

Related Experiment Videos

Exclusion map of the gene for neuraminidase from 10(pter-->p15.1)

Related Concept Videos

[Epicardial atrial pacing using an active fixation bipolar endocardial lead in children].

[Delayed onset malignant hyperthermia after a closure of ventricular septal defect].

[Asplenia syndrome with total anomalous pulmonary venous connection].

Multicentre study of fetal cardiac time intervals using magnetocardiography.

Signal-averaged electrocardiogram in children and adolescents with insulin-dependent diabetes mellitus.

Screening for 22q11 deletions in a schizophrenia population.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Perioperative management of a patient with retrosternal giant goiter and Gitelman syndrome: a case report.

Obesity and reduced renal corticomedullary differentiation on T1 mapping: a population-based UK Biobank study.

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Related Experiment Videos

Exclusion map of the gene for neuraminidase from 10(pter-->p15.1)

Related Concept Videos

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