[Recombinant DNA technics in the study of hereditary 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

Father-Son Comparison of Reproductive Traits.

Andrology·2026

Pediatric Gastric GIST With SDHA Truncation Despite Retained SDHB Staining: A Case Report.

Journal of pediatric hematology/oncology·2026

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.

Frontiers in genetics·2026

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Frontiers in genetics·2026

Notch-regulated hematopoiesis in Drosophila: Parallels and contrasts with vertebrate blood development.

Developmental biology·2026

Serotonin deficiency caused by inactivation of Tph2 in mice leads to widespread sex-dependent changes in cerebral oxidative metabolic activity.

Journal of neural transmission (Vienna, Austria : 1996)·2026

Related Experiment Videos

[Recombinant DNA technics in the study of hereditary 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.

Father-Son Comparison of Reproductive Traits.

Pediatric Gastric GIST With SDHA Truncation Despite Retained SDHB Staining: A Case Report.

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Notch-regulated hematopoiesis in Drosophila: Parallels and contrasts with vertebrate blood development.

Serotonin deficiency caused by inactivation of Tph2 in mice leads to widespread sex-dependent changes in cerebral oxidative metabolic activity.

Related Experiment Videos

[Recombinant DNA technics in the study of hereditary diseases]

Related Concept Videos

Related Articles