The Gale encyclopedia of genetic disorders
Record details
- ISBN: 9780028683942
- ISBN: 9780028683904
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Physical Description:
access
remote
1 online resource (3 volumes (xxiv, 2296 pages)) : color illustrations - Edition: Fifth edition.
- Publisher: Farmington Hills, Michigan : Gale, [2022]
- Copyright: ©2022
Content descriptions
Bibliography, etc. Note: | Includes bibliographical references and index. |
Formatted Contents Note: | 18p deletion syndrome -- 18q deletion syndrome -- 22q11.2 deletion syndrome -- 22q13 deletion syndrome -- 3-M syndrome -- 3-Methylglutaconic aciduria type 2 -- 3D organoid biosystems -- 46,XX testicular disorder of sex development -- Aarskog syndrome -- Abetalipoproteinemia -- Absence of vas deferens -- Accutane embryopathy -- Aceruloplasminemia -- Achondroplasia -- ACHOO syndrome -- Acrocallosal syndrome (ACLS), Schnizel type, Joubert syndrome, and related disorders -- Acromegaly -- Adams-Oliver syndrome -- Adaptive immunity -- Adelaide-type craniosynostosis -- Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy -- Agensis of the corpus callosum -- Aicardi syndrome -- ALA dehydratase deficiency -- Alagille syndrome -- Albinism -- Alcoholism -- Alexander disease -- Alkaptonuria -- Alpha thalassemia -- Alpha-1 antitrypsin deficiency -- Alpha-thalassemia X-linked intellectual disability syndrome -- Alport syndrome -- Alström syndrome -- Alzheimer's disease -- Ambiguous genitalia -- Amelia -- Amelogenesis imperfecta -- Amniocentesis -- Amyloidosis -- Amyotrophic lateral sclerosis -- Androgen insensitivity syndrome -- Anencephaly -- Angelman syndrome -- Ankylosing spondylitis -- Apert syndrome -- Arginase deficiency -- Arnold-Chiari malformation -- Arthrogryposis multiplex congenita -- Arthropathy-camptodactyly syndrome -- Asperger syndrome -- Asplenia -- Asthma -- Astrocytoma -- Ataxia-Telangiectasia -- Attention deficit hyperactivity disorder -- Atypical Singleton-Merten syndrome -- Autism spectrum disorders -- Autologous germline mitochondrial transfer -- Autosomal dominant multiple pterygium syndrome -- AUTS2 syndrome -- Bardet-Biedl syndrome -- Base editing -- Beare-Stevenson cutis gyrata syndrome -- Beckwith-Wiedemann syndrome -- Beta thalaseemia -- Bicuspid aortic valve -- Biotinidase deficiency -- Bipolar disorder -- Birt-Hogg-Dubé syndrome -- Bloom syndrome -- Blue rubber bleb nevus syndrome -- Brachydactyly -- Branchiootorenal (BOR) syndrome -- Breast cancer -- Bruton agammaglobulinemia -- Campomelic dysplasia -- Camurati-Engelmann disease -- Canavan disease -- Cancer -- Cancer genetics -- Cardiofaciocutaneous syndrome -- Carnitine palmitoyltransferase deficiency -- Carpenter syndrome -- Caudal dysplasia -- CECR1 gene-recurrent fevers and strokes in children -- Celiac disease -- Cell-free DNA test -- Cenani-Lenz syndrome -- Central core disease -- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) -- Cerebral palsy -- Channelopathies -- Charcot-Marie-Tooth disease -- CHARGE syndrome -- Chediak-Higashi syndrome -- Chondrodysplasia punctata -- Chondrosarcoma -- CHOPS syndrome -- Chorionic villus sampling -- Choroideremia -- Chromosomal abnormalities -- Chromosome -- Cleft lip and palate -- Cleidocranial dysplasia -- Clubfoot -- Cockayne syndrome -- CODAS syndrome -- Coffin-Lowry syndrome -- Coffin-Siris syndrome -- Cohen syndrome -- Cole-Carpenter syndrome -- Colitis -- Collagenopathy, types II and XI -- Coloboma -- Color blindness -- Combined pituitary hormone deficiency -- Computational genomics -- Cone-rod dystrophy -- Congenital adrenal hyperplasia -- Congenital contractural arachnodactyly -- Congenital heart disease -- Congenital hypothyroid syndrome -- Congenital microcoria -- Conjoined twins -- Connectome genetics -- Corneal dystrophy -- Cornelia de Lange syndrome -- Costello syndrome -- Cowden syndrome -- Crane-Heise syndrome -- Craniofacial microsomia -- Craniosynostosis -- Creutzfeldt-Jakob disease -- Cri du chat syndrome -- Crispr/Cas -- Crohn's disease -- Crouzon syndrome -- Courzonodermoskeletal syndrome -- Cystic Fibrosis -- Cystinosis -- Cystinuria -- Dandy-Walker malformation -- De novo -- Dementia, hereditary forms -- Dent disease -- Dentatorubral-pallidoluysian atrophy -- Depression -- Diabetes -- Diamond-Blackfan anemia -- Diastrophic dysplasia -- Direct-to-consumer genetic testing -- Disorders of sex development (DSD) -- DNA (deoxyribonucleic acid) -- DNA methylation -- Donohue syndrome -- Down syndrome -- Dubowitz syndrome -- Duchenne and Becker muscular dystrophy -- Dyschondrosteosis -- Dysplasia -- Dystonia -- Ectodermal dysplasia -- Ectrodactyly-ectodermal dysplasia-clefting syndrome -- Edwards syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Emery-Dreifuss muscular dystrophy -- Encephalocele -- Epidermolysis bullosa -- Epigenetic inheritance -- Epigenome -- Epilepsy -- Erythropoietic porphyria -- Erythropoietic protoporphyria -- Essential hypertension -- Essential tremor -- Ex vivo lentiviral gene therapies -- Exome sequencing -- Expanded carrier screening (ECS) -- Fabry disease -- Facioscapulohumeral muscular dystrophy -- Factor V Leiden thrombophilia -- Familial adenomatous polyposis -- Familial dysautonomia -- Familial idiopathic basal ganglia calcification -- Familial lipoprotein lipase deficiency -- Familial Mediterranean fever -- Fanconi anemia -- Fanconi-Bickel syndrome -- Feingold syndrome -- Fetal alcohol spectrum disorders -- FG syndrome -- Fibroblast growth factor receptor-related conditions -- First-trimester pregnancy screening -- Fluorescent in situ hybridization -- Focal dermal hypoplasia -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Frontotemporal dementia -- Fryns syndrome -- Galactosemia -- Galactosialidosis -- Gamete donor anonymity -- Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene -- Gene editing -- Gene fusion -- Gene mutations -- Gene panel testing -- Gene pool -- Gene regulatory networks -- Gene therapy -- Genetic anthropology -- Genetic counseling -- Genetic disorders -- Genetic gain -- Genetic Information Nondiscrimination Act (GINA) -- Genetic mapping -- genetic testing -- Genetics and congenital anomalies -- Genome -- Genome sequencing -- Genome- and epigenome-wide association studies -- Genomic medicine -- Genotype and phenotype -- Genotype tissue expression project (GTEx) -- Germline genome editing -- Germline mosaicism -- Giant congenital melanocytic nevus -- Glanzmann thrombasthenia nevus -- Glycine encephalopathy -- Glycogen storage diseases -- GM1-gangliosidosis -- Greig cephalopolysyndactyly -- Griscelli syndrome -- Haim-Munk syndrome -- Hair loss syndromes -- Hallermann-Streiff syndrome -- Hand-foot-genital syndrome -- Harlequin ichthyosis -- HeLa cells -- Hemihypertrophy (Hemihyperplasia) -- Hemochromatosis -- Hemolytic-uremic syndrome -- Hemophilia -- Hepatocellular carcinoma -- Herceptin -- Hereditary angioneurotic edema -- Hereditary colorectal cancer -- Hereditary coproporphyria -- Hereditary desmoid disease -- Hereditary hearing loss and deafness -- Hereditary hemorrhagic telangiectasia -- Hereditary hypertrophic cardiomyopathy -- Hereditary multiple osteochondromas -- Hereditary neuropathy with liability to pressure palsies -- Hereditary pancreatitis -- Hereditary spastic paraplegia -- Hereditary spherocytosis -- Hermansky-Pudlak syndrome -- Hirschsprung disease -- Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria -- Human Genome Project -- Huntington's disease -- Hutchinson-Gilford progeria syndrome -- Hydrocephalus -- Hydrolethalus syndrome 1 (HLS1) -- Hydrops fetalis -- Hyperphenylalaninemia -- Hypochondrogenesis -- Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia -- Hypospadias and epispadias -- Ichthyosis -- Imprinting -- Incontinentia pigmenti -- Infertility -- Inheritance -- Inherited arrhythmia -- Jackson-Weiss syndrome -- Jacobsen syndrome -- Jervell and Lange-Nielsen syndrome -- Joubert syndrome -- Kabuki syndrome -- Kallmann syndrome -- Karyomapping -- Karyotype -- Keppen-Lubinsky syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay-Weber syndrome -- Kniest dysplasia -- Krabbe disease -- L1 syndrome -- Langer-Saldino achondrogenesis -- Larsen syndrome -- Laterality sequence -- Leber congenital amaurosis -- Leber hereditary optic atrophy -- Leigh Syndrome -- Lesch-Nyhan syndrome -- Leukodystrophy -- Li-Fraumeni syndrome -- Limb-girdle muscular dystrophy -- Liquid biopsy -- Lissencephaly -- Long QT syndrome -- Lowe oculocerebrorenal syndrome -- Lupus -- Lynch syndrome -- Macular degeneration-age-related -- Major histocompatibility complex -- Male infertility -- Malignant hyperthermia -- Mannosidosis -- Marfan syndrome -- Marshall syndrome -- Marshall-Smith syndrome -- MCAD deficiency -- McCune-Albright syndrome -- McKusick-Kaufman syndrome -- |
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Gale Encyclopedia of Genetic Disorders, 5th Ed
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