Chromosome Disorders

Opposite effects on facial morphology due to gene dosage sensitivity

Genetics / Human Genetics / Complementary and Alternative Medicine / Face / Adolescent / Humans / Child / Female / Male / Three Dimensional Imaging / Gene Duplication / Gene Dosage / Phenotype / Adult / European Continental Ancestry Group / Chromosome Disorders / Case Control Studies / Humans / Child / Female / Male / Three Dimensional Imaging / Gene Duplication / Gene Dosage / Phenotype / Adult / European Continental Ancestry Group / Chromosome Disorders / Case Control Studies

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Research Design / Polymorphism / Population Genetics / Risk / Biological Sciences / Primates / Humans / Animals / Gene Dosage / Chromosome Disorders / Human Disease / Complex Structure / Comparative Genomic Hybridization / Primates / Humans / Animals / Gene Dosage / Chromosome Disorders / Human Disease / Complex Structure / Comparative Genomic Hybridization

Chromosomal mosaicism in human preimplantation embryos: a systematic review

Humans / Aneuploidy / Blastocyst / Meta Analysis / Systematic review / Single Cell / Clinical Sciences / Prevalence / Human reproduction / Public health systems and services research / Fertilization in Vitro / Chromosome Disorders / Mosaicism / Embryos / Chromosomal abnormalities / Single Cell / Clinical Sciences / Prevalence / Human reproduction / Public health systems and services research / Fertilization in Vitro / Chromosome Disorders / Mosaicism / Embryos / Chromosomal abnormalities

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

Facial expression / Family history / Humans / Muscular Dystrophy / Female / Male / DNA analysis / Differential Diagnosis / Aged / Middle Aged / Adult / Physical examination / Chromosome Disorders / Clinical Signs / Male / DNA analysis / Differential Diagnosis / Aged / Middle Aged / Adult / Physical examination / Chromosome Disorders / Clinical Signs

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Research Design / Polymorphism / Population Genetics / Risk / Biological Sciences / Primates / Humans / Animals / Gene Dosage / Chromosome Disorders / Human Disease / Complex Structure / Comparative Genomic Hybridization / Primates / Humans / Animals / Gene Dosage / Chromosome Disorders / Human Disease / Complex Structure / Comparative Genomic Hybridization

Occidental type cerebromuscular dystrophy: a report of eleven cases

Neurology / Turkey / Biopsy / Brain / Humans / Female / Muscular Dystrophies / Male / Muscles / Infant / Ct Scan / Chromosome Disorders / X ray Computed Tomography / Female / Muscular Dystrophies / Male / Muscles / Infant / Ct Scan / Chromosome Disorders / X ray Computed Tomography

Unusual Superficial Confluent Form of Granular Corneal Dystrophy

Ophthalmology / Electron Microscopy / Cornea / Humans / Female / Clinical Sciences / Middle Aged / Optometry and Ophthalmology / Corneal Opacity / Public health systems and services research / Chromosome Disorders / Clinical Sciences / Middle Aged / Optometry and Ophthalmology / Corneal Opacity / Public health systems and services research / Chromosome Disorders

Chromosomal mosaicism in human preimplantation embryos: a systematic review

Reproduction / Humans / Aneuploidy / Blastocyst / Meta Analysis / Systematic review / Single Cell / Clinical Sciences / Prevalence / Human reproduction / Public health systems and services research / Fertilization in Vitro / Chromosome Disorders / Mosaicism / Embryos / Chromosomal abnormalities / Systematic review / Single Cell / Clinical Sciences / Prevalence / Human reproduction / Public health systems and services research / Fertilization in Vitro / Chromosome Disorders / Mosaicism / Embryos / Chromosomal abnormalities

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