[Prenatal diagnosis of genetic diseases]

Free sialic acid storage (Salla) disease in Sweden.

Acta paediatrica (Oslo, Norway : 1992)·2003

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Prenatal diagnosis·2001

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Clinical genetics·2001

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

American journal of human genetics·2000

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

Neurology·2000

Origin of Finnish mutations causing aspartylglucosaminuria.

Hereditas·2000

Update on Current Care Guideline: Psoriasis (skin and joints).

Duodecim; laaketieteellinen aikakauskirja·2017

FOUR score in monitoring the level of consciousness of an intensive care patient: first experience of the use of the Finnish language version.

Duodecim; laaketieteellinen aikakauskirja·2017

Discussing a serious illness with a patient and family.

Duodecim; laaketieteellinen aikakauskirja·2017

Invasive treatment of superficial veins of the lower extremities.

Duodecim; laaketieteellinen aikakauskirja·2017

When should a drain be left in the abdominal cavity upon surgery?

Duodecim; laaketieteellinen aikakauskirja·2017

Diagnostics and current care of myasthenia gravis.

Duodecim; laaketieteellinen aikakauskirja·2017

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

Ophthalmology science·2026

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Journal of assisted reproduction and genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Science advances·2026

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications.

Human reproduction update·2026

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

PloS one·2026

Related Experiment Videos

[Prenatal diagnosis of genetic diseases]

Related Concept Videos

Free sialic acid storage (Salla) disease in Sweden.

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

Origin of Finnish mutations causing aspartylglucosaminuria.

Update on Current Care Guideline: Psoriasis (skin and joints).

FOUR score in monitoring the level of consciousness of an intensive care patient: first experience of the use of the Finnish language version.

Discussing a serious illness with a patient and family.

Invasive treatment of superficial veins of the lower extremities.

When should a drain be left in the abdominal cavity upon surgery?

Diagnostics and current care of myasthenia gravis.

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

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Natural variation in SL6 determines fatty acid components and seed longevity in rice.

Genetic architecture of endometriosis: risk factors, comorbidities and clinical implications.

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

Related Experiment Videos

[Prenatal diagnosis of genetic diseases]

Related Concept Videos

Related Articles