[Molecular genetics and prenatal diagnosis. Status and perspectives]

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

Chlamydia trachomatis incidence in relation to vaginal microbiota dynamics, immunogenetics and exposures in a cohort of young student women in France.

The Journal of infectious diseases·2026

Exosome-Related Pathogenic Genes in Adenomyosis: A Multi-Omics Mendelian Randomization Study.

Omics : a journal of integrative biology·2026

Cognitive performance and neuroimaging markers across the glycemic spectrum in multiethnic Asian older adults.

Journal of internal medicine·2026

Early pregnancy fasting plasma glucose and risk factors: impact on gestational diabetes mellitus and other adverse perinatal outcomes in singleton and twin pregnancies.

Frontiers in medicine·2026

Integrative analysis of gut microbiota, plasma metabolome, and gene expression identifies causal mediators in Graves' disease pathogenesis.

Frontiers in microbiology·2026

A single-cell transcriptomic atlas of the periventricular proliferative zone in the late gestation fetal brain in the pigtail macaque.

Frontiers in neuroscience·2026

Related Experiment Videos

[Molecular genetics and prenatal diagnosis. Status and perspectives]

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].

Chlamydia trachomatis incidence in relation to vaginal microbiota dynamics, immunogenetics and exposures in a cohort of young student women in France.

Exosome-Related Pathogenic Genes in Adenomyosis: A Multi-Omics Mendelian Randomization Study.

Cognitive performance and neuroimaging markers across the glycemic spectrum in multiethnic Asian older adults.

Early pregnancy fasting plasma glucose and risk factors: impact on gestational diabetes mellitus and other adverse perinatal outcomes in singleton and twin pregnancies.

Integrative analysis of gut microbiota, plasma metabolome, and gene expression identifies causal mediators in Graves' disease pathogenesis.

A single-cell transcriptomic atlas of the periventricular proliferative zone in the late gestation fetal brain in the pigtail macaque.

Related Experiment Videos

[Molecular genetics and prenatal diagnosis. Status and perspectives]

Related Concept Videos

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