A linkage study of phenylketonuria

5-Aminolevulinic acid-based photodynamic therapy. Clinical research and future challenges.

Cancer·1997

Use of 5-aminolevulinic acid esters to improve photodynamic therapy on cells in culture.

Cancer research·1997

Increased levels of intercellular adhesion molecules and vascular cell adhesion molecules in pre-eclampsia.

British journal of obstetrics and gynaecology·1997

Effects of MnDPDP, DPDP--, and MnCl2 on cardiac energy metabolism and manganese accumulation. An experimental study in the isolated perfused rat heart.

Investigative radiology·1997

[Craniosynostosis operations in childhood].

Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS·1997

Molecular genetics of familial hypercholesterolaemia in Norway.

Journal of internal medicine·1997

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clinical genetics·2026

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics·2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Clinical genetics·2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics·2026

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics·2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

PLoS genetics·2026

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Neurology. Genetics·2026

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Animals : an open access journal from MDPI·2026

Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Animals : an open access journal from MDPI·2026

Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

International journal of molecular sciences·2026

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Molecular psychiatry·2026

Related Experiment Videos

A linkage study of phenylketonuria

Related Concept Videos

5-Aminolevulinic acid-based photodynamic therapy. Clinical research and future challenges.

Use of 5-aminolevulinic acid esters to improve photodynamic therapy on cells in culture.

Increased levels of intercellular adhesion molecules and vascular cell adhesion molecules in pre-eclampsia.

Effects of MnDPDP, DPDP--, and MnCl2 on cardiac energy metabolism and manganese accumulation. An experimental study in the isolated perfused rat heart.

[Craniosynostosis operations in childhood].

Molecular genetics of familial hypercholesterolaemia in Norway.

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Related Experiment Videos

A linkage study of phenylketonuria

Related Concept Videos

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