[Cis- and trans-mutations in genetic diseases]

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Journal of medical genetics·2003

[Preimplantation genetic diagnosis and its psychological effects].

Journal de gynecologie, obstetrique et biologie de la reproduction·2003

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Journal of medical genetics·2003

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Lancet (London, England)·2003

Identification of seven novel mutations in the GAN gene.

Human mutation·2003

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Journal of medical genetics·2003

[Natal and neonatal teeth. Management].

Annales de pediatrie·1993

[Risks of failure of uncontrolled adoption of foreign children].

Annales de pediatrie·1993

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

Annales de pediatrie·1993

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

Annales de pediatrie·1993

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

Annales de pediatrie·1993

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

Annales de pediatrie·1993

Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.

Frontiers in endocrinology·2026

Linking SIRT1 gene variation and protein levels to the pathophysiology of type 2 diabetes.

Molecular biology research communications·2026

Pharmacogenetic analyses in people with dementia in Northeast Germany.

Alzheimer's & dementia (Amsterdam, Netherlands)·2026

Research progress on targeted regulatory proteins in the prevention and treatment of atherosclerosis.

Frontiers in immunology·2026

Retraction Note: Micropropagation and assessment of genetic fidelity of Dendrocalamus strictus (Roxb.) nees using RAPD and ISSR markers.

3 Biotech·2026

Distribution of ST116 carbapenem-resistant Citrobacter freundii in public genomes and characterization of a triple-carbapenemase-producing strain.

Frontiers in cellular and infection microbiology·2026

Related Experiment Videos

[Cis- and trans-mutations in genetic diseases]

Related Concept Videos

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

[Preimplantation genetic diagnosis and its psychological effects].

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells.

Identification of seven novel mutations in the GAN gene.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

[Natal and neonatal teeth. Management].

[Risks of failure of uncontrolled adoption of foreign children].

[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?].

[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit].

[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot].

[Fulminant pneumococcal septicemia in a splenectomized child despite vaccination and chemoprophylaxis: necessity for education of the entourage].

Genomic landscape of Mexican patients with maturity onset diabetes of the young: beyond mutations in MODY-known genes.

Linking <i>SIRT1</i> gene variation and protein levels to the pathophysiology of type 2 diabetes.

Pharmacogenetic analyses in people with dementia in Northeast Germany.

Research progress on targeted regulatory proteins in the prevention and treatment of atherosclerosis.

Retraction Note: Micropropagation and assessment of genetic fidelity of <i>Dendrocalamus strictus</i> (Roxb.) nees using RAPD and ISSR markers.

Distribution of ST116 carbapenem-resistant <i>Citrobacter freundii</i> in public genomes and characterization of a triple-carbapenemase-producing strain.

Related Experiment Videos

[Cis- and trans-mutations in genetic diseases]

Related Concept Videos

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