Classical clinical genetics in the era of molecular genetics

Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

Journal of inherited metabolic disease·2009

Excess of malignancies in grandparents of children with malformations? Short communication.

Acta biologica Hungarica·2006

Association of nonsyndromic Wilms tumor with premature centromere division (PCD).

American journal of medical genetics·2002

Increased frequency of the C3*F allele and the Leiden mutation of coagulation factor V in patients with severe coronary heart disease who survived myocardial infarction.

Experimental and clinical immunogenetics·2002

[Centromere separation and malignancy].

Orvosi hetilap·2000

No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.

Clinical genetics·2000

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Human mutation·2026

Association of GLI1 overexpression with acanthomatous change in ameloblastoma.

Journal of dental sciences·2026

Connectome Gradient-Based Subtyping of Major Depressive Disorder Reveals Distinct Neurobiological and Transcriptomic Signatures.

Depression and anxiety·2026

[Construction of a Multi-Factor Quantitative Scoring Model for Chromosome Karyotype Analysis].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition·2026

Glutamatergic neuron degeneration in C. elegans models of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

microPublication biology·2026

cgDist: Nucleotide-level distance calculation from cgMLST allelic profiles.

NAR genomics and bioinformatics·2026

Related Experiment Videos

Classical clinical genetics in the era of molecular genetics

Related Concept Videos

Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

Excess of malignancies in grandparents of children with malformations? Short communication.

Association of nonsyndromic Wilms tumor with premature centromere division (PCD).

Increased frequency of the C3*F allele and the Leiden mutation of coagulation factor V in patients with severe coronary heart disease who survived myocardial infarction.

[Centromere separation and malignancy].

No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Association of GLI1 overexpression with acanthomatous change in ameloblastoma.

Connectome Gradient-Based Subtyping of Major Depressive Disorder Reveals Distinct Neurobiological and Transcriptomic Signatures.

[Construction of a Multi-Factor Quantitative Scoring Model for Chromosome Karyotype Analysis].

Glutamatergic neuron degeneration in C. elegans models of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

cgDist: Nucleotide-level distance calculation from cgMLST allelic profiles.

Related Experiment Videos

Classical clinical genetics in the era of molecular genetics

Related Concept Videos

Related Articles