Clinical Genetics

Prevalence of retinitis pigmentosa in Slovenia

Genetics / Adolescent / Humans / Child / Retinitis pigmentosa / Sex ratio / Female / Clinical Genetics / Male / Infant / Slovenia / Genetic linkage analysis / Clinical Sciences / Newborn Infant / Aged / Prevalence / Middle Aged / Adult / X chromosome / Sex ratio / Female / Clinical Genetics / Male / Infant / Slovenia / Genetic linkage analysis / Clinical Sciences / Newborn Infant / Aged / Prevalence / Middle Aged / Adult / X chromosome

Sperm chromosome analysis to assess potential germ cell mosaicism

Genetics / Humans / Clinical Genetics / Male / Karyotyping / Pedigree / Clinical Sciences / Newborn Infant / Adult / Chromosome Disorders / Mosaicism / Spermatozoa / Germ Cell / Pedigree / Clinical Sciences / Newborn Infant / Adult / Chromosome Disorders / Mosaicism / Spermatozoa / Germ Cell

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?

Genetics / Spine / Humans / Haplotypes / Clinical Genetics / Neurofibromatosis / Risk factors / Clinical Sciences / Risk Factors / Biomechanical Phenomena / Neurofibromatosis / Risk factors / Clinical Sciences / Risk Factors / Biomechanical Phenomena

Digital clubbing, hyperhidrosis, acro-osteolysis and osteoporosis. A case resembling pachydermoperiostosis

Genetics / Osteoporosis / Humans / Mutation / Hyperhidrosis / Female / Clinical Genetics / Clinical Sciences / Consanguinity / Bone Resorption / Osteolysis / Female / Clinical Genetics / Clinical Sciences / Consanguinity / Bone Resorption / Osteolysis

RUNX2 analysis of Danish cleidocranial dysplasia families

Genetics / Denmark / Humans / Mutation / Female / Clinical Genetics / Male / Genetic Association Studies / Gene Order / Pedigree / Phenotype / Clinical Sciences / Genotype / Adult / Amino Acid Substitution Rates / Cohort Studies / Clinical Genetics / Male / Genetic Association Studies / Gene Order / Pedigree / Phenotype / Clinical Sciences / Genotype / Adult / Amino Acid Substitution Rates / Cohort Studies

RUNX2 analysis of Danish cleidocranial dysplasia families

Genetics / Denmark / Humans / Mutation / Female / Clinical Genetics / Male / Genetic Association Studies / Gene Order / Pedigree / Phenotype / Clinical Sciences / Genotype / Adult / Amino Acid Substitution Rates / Cohort Studies / Clinical Genetics / Male / Genetic Association Studies / Gene Order / Pedigree / Phenotype / Clinical Sciences / Genotype / Adult / Amino Acid Substitution Rates / Cohort Studies

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Genetics / Human Genetics / Lebanon / Molecular Genetics / Intellectual Disability / Mental Retardation / Cytogenetics / Humans / Clinical Genetics / C2H2 zinc fingers / Cerebellar ataxia / Genetic linkage analysis / European / Zinc Finger / Family Health / DNA binding / Disease Progression / Amino Acid Profile / Amino Acid Sequence / Autosomal Recessive / DNA binding proteins / Genetic Markers / Gene Expression Regulation / Zinc Finger Protein / Molecular Sequence Data / Mental Retardation / Cytogenetics / Humans / Clinical Genetics / C2H2 zinc fingers / Cerebellar ataxia / Genetic linkage analysis / European / Zinc Finger / Family Health / DNA binding / Disease Progression / Amino Acid Profile / Amino Acid Sequence / Autosomal Recessive / DNA binding proteins / Genetic Markers / Gene Expression Regulation / Zinc Finger Protein / Molecular Sequence Data

Copyright © 2017 DADOSPDF Inc.