Molecular Genetics

Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: The unsolved paradox

Molecular Genetics / Adolescent / Dopamine / Humans / Child / Female / Animals / Male / Genetic Association Studies / Young Adult / Infant / Clinical Sciences / Rats / Adult / Tyramine / Amino Acid Profile / Metabolic pathway / Tyrosine / DNA mutational analysis / Child preschool / Female / Animals / Male / Genetic Association Studies / Young Adult / Infant / Clinical Sciences / Rats / Adult / Tyramine / Amino Acid Profile / Metabolic pathway / Tyrosine / DNA mutational analysis / Child preschool

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Genetics / Molecular Biology / Dermatology / Molecular Genetics / Biopsy / ABC transporters / Humans / Kidney / Liver / Mutation / Mice / Animals / Phenotype / Clinical Sciences / Experimental / ABC transporters / Humans / Kidney / Liver / Mutation / Mice / Animals / Phenotype / Clinical Sciences / Experimental

Case Report Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report

Genetics / Molecular Genetics / Language disorders / Case Report / Humans / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health / Female / Male / Infant / Karyotyping / Pedigree / Phenotype / Trisomy 21 / Family Health

Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis

Molecular Genetics / Female / Animals / Male / Horses / Enzyme / Clinical Sciences / Enzyme activity / Metabolic Disorder / Clinical Signs / Lactic Acid / Rhabdomyolysis / Organic Acid / Enzyme / Clinical Sciences / Enzyme activity / Metabolic Disorder / Clinical Signs / Lactic Acid / Rhabdomyolysis / Organic Acid

New tubulins in protozoal parasites

Biochemistry / Molecular Genetics / Biological Sciences / Animals / Proteins / Current / Trypanosoma brucei brucei / Tubulin / Protozoan Proteins / Amino Acid Sequence / Leishmania Major / Molecular Sequence Data / Current / Trypanosoma brucei brucei / Tubulin / Protozoan Proteins / Amino Acid Sequence / Leishmania Major / Molecular Sequence Data

Palmitoyl-Protein thioesterase deficiency in a novel granular variant of LINCL

Electron Microscopy / Molecular Genetics / Pediatric Neurology / Humans / Child / Infant / Biological markers / Disease Progression / Neurosciences / Age of Onset / Electron Microscope / Child preschool / Infant / Biological markers / Disease Progression / Neurosciences / Age of Onset / Electron Microscope / Child preschool

Molecular Genetic Consequences of a Population Bottleneck Associated with Reintroduction of the Mauna Kea Silversword (Arg yroxiphium sandwicense ssp. sandwicense [Asteraceae]). Consecuencias Genetico-Moleculares de un Cuello de Botella Poblacional Asociado con la Reintroduccion de la Espada Plat...

Conservation Biology / Molecular Genetics / Biological Sciences / Environmental Sciences

Identificacion de Familias

Genetics / Medical Genetics / Population Genetics / Evolutionary genetics / Molecular Genetics / Genetic Engineering

The Kratom Plant [Mitragyna speciosa (Korth.)] Paradox: Beneficial or Detrimental?

Botany / Molecular Biology / Plant Biology / Medicinal Plants / Molecular Genetics / Plant Molecular Biology / Recombinant DNA Technology / Herbal Drugs / Plant Molecular Biology / Recombinant DNA Technology / Herbal Drugs

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Genetics / Human Genetics / Molecular Genetics / Adolescent / Cytogenetics / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool / Humans / Child / Genetic Testing / Female / Clinical Genetics / Male / Infant / Proteins / Gene Duplication / Human Genome / Adult / Cornelia de Lange Syndrome / Sensitivity and Specificity / Cell Cycle Proteins / Comparative Genomic Hybridization / Cohort Studies / DNA mutational analysis / Child preschool

EFFECTIVE IDENTIFICATION OF LACTOBACILLUS PARACASEI SSP. PARACASEI-1 BY 16S-23S rRNA INTERGENIC SPECER REGION SEQUENCING

Probiotics / Molecular Genetics / Food Microbiology / Dairy Microbiology / Food Fermentation

Identification and in silico expression pattern analysis of Eucalyptus expressed sequencing tags (ESTs) encoding molecular chaperones

Genetics / Molecular Genetics / Molecular Biology and genetics / In Silico

An efficient method for DNA extraction from Cladosporioid fungi

Genetics / Molecular Genetics / Phylogeny / DNA Extraction / Polymerase Chain Reaction / Genomic DNA / Plant Pathogen / Species Specificity / Base Sequence / Cell Wall / Cladosporium / DNA fragmentation / Genomic DNA / Plant Pathogen / Species Specificity / Base Sequence / Cell Wall / Cladosporium / DNA fragmentation

DNA repair and transcription deficiency syndromes

Genetics / Molecular Genetics / DNA damage / DNA repair / Transcription / Cell Death / Deficiency / Genetic Code / Cell Death / Deficiency / Genetic Code

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Epidemiology / Medical Genetics / Molecular Genetics / Biological Sciences / Humans / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity

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