The Gale encyclopedia of genetic disorders
(eBook)
Series:
Published:
Farmington Hills, Michigan : Gale, [2022].
Format:
eBook
Edition:
Fifth edition.
ISBN:
9780028683942
Content Description:
1 online resource (3 volumes (xxiv, 2296 pages)) : color illustrations.
Status:
Available Online
Description
Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons.
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Citations
APA Citation (style guide)
Narins, B. (2022). The Gale encyclopedia of genetic disorders. Fifth edition. Farmington Hills, Michigan, Gale.
Chicago / Turabian - Author Date Citation (style guide)Narins, Brigham, 1962-. 2022. The Gale Encyclopedia of Genetic Disorders. Farmington Hills, Michigan, Gale.
Chicago / Turabian - Humanities Citation (style guide)Narins, Brigham, 1962-, The Gale Encyclopedia of Genetic Disorders. Farmington Hills, Michigan, Gale, 2022.
MLA Citation (style guide)Narins, Brigham. The Gale Encyclopedia of Genetic Disorders. Fifth edition. Farmington Hills, Michigan, Gale, 2022.
Note! Citation formats are based on standards as of July 2022. Citations contain only title, author, edition, publisher, and year published. Citations should be used as a guideline and should be double checked for accuracy.
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Language:
English
Notes
Bibliography
Includes bibliographical references and index.
Description
Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons.
Staff View
Grouped Work ID:
28e67ad7-9834-186d-3539-e9fcd0424c60
Record Information
| Last Sierra Extract Time | Nov 16, 2024 05:40:12 AM |
|---|---|
| Last File Modification Time | Nov 16, 2024 05:40:39 AM |
| Last Grouped Work Modification Time | Nov 16, 2024 05:40:18 AM |
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| 245 | 0 | 4 | |a The Gale encyclopedia of genetic disorders / |c Brigham Narins, editor. |
| 250 | |a Fifth edition. | ||
| 264 | 1 | |a Farmington Hills, Michigan : |b Gale, |c [2022] | |
| 264 | 4 | |c ©2022 | |
| 300 | |a 1 online resource (3 volumes (xxiv, 2296 pages)) : |b color illustrations. | ||
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| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a 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 -- | |
| 505 | 0 | |a Meckel's diverticulum -- Meckel-Gruber syndrome -- Melanoma -- Menkes syndrome -- Metaphyseal dysplasia -- Methemoglobinemia, beta-globin type -- Methylenetetrahydrofolate reductase variant (MTHFR gene variant) -- Methylmalonic acidemia -- Micro syndrome -- Microbiome -- Microcephaly -- Microcephaly and hypomyelination -- Microcephaly with spastic diplegia -- Microdeletion and microdeletion syndromes -- Miller-Dieker syndrome -- Mitochondrial disease -- Mitochondrial replacement therapy (MRT) -- Moebius syndrome -- Monosomy 1p36 syndrome -- Mowat-Wilson syndrome -- Moyamoya -- mRNA vaccine technology -- Mucolipidosis -- Mucopolysaccharidoses -- Muir-Torre syndrome -- Multifactorial inheritance -- Multiple endoncrine neoplasia -- Multiple epiphyseal dysplasia -- Multiple lentigines syndrome -- Multiple sclerosis -- Multiplex ligation-dependent probe amplification -- Muscular dystrophy -- Mutations (on-target and off-target) -- Myasthenia gravis -- MYH9-related disorders -- Myopia -- Myotonia congenita -- Myotonic dystropy -- Myotubular myopathy -- Nail-patella syndrome -- Nance-Insley syndrome -- Narcolepsy -- Nephrogenic diabetes insipidus -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis -- Neuronal ceroid lipofuscinoses -- Nevoid basal cell carcinoma -- Next-generation sequencing -- NGLY1 deficiency -- Niemann-Pick disease -- Nijmegen breakage syndrome -- Noninvasive prenatal screening -- Noonan syndrome -- Norrie disease -- Nucleic acid therapies -- Obesity. | |
| 505 | 8 | |a Oculodentodigital syndrome -- Oligohydramnios sequence -- Omphalocele -- Oncogene -- Opitz syndrome -- Oral-facial-digital syndrome -- Organic acidemias -- Omithine transcarbamylase deficiency -- Osteoarthritis -- Osteogenesis imperfecta -- Osteoporosis -- Osteosarcoma -- Otopalatodigital syndrome -- Ovarian cancer -- Pallister-Hall syndrome -- Pallister-Killian syndrome -- Pancreatic beta cell agenesis -- Pancreatic cancer -- Panic disorder -- Pantothenate kinase-associated neurodegeneration -- Parkes Weber syndrome -- Parkinson's disease -- Paroxysmal nocturnal hemoglobinuria -- Patent ductus arteriosus -- Pedigree analysis -- Pelizaeus-Merzbacher disease -- Pendred syndrome -- Pervasive development disorders -- Peutz-Jeghers syndrome -- Pfeiffer syndrome -- Pharmacogenetics -- Pharmacogenomics -- Phenylketonuria (PKU) -- Pierre-Robin sequence -- Poland anomaly -- Polycystic ovary syndrome -- Polydactyly -- Polygenic risk scoring -- Pompe disease -- Pontocerebellar hypoplasia (PCH) -- Porphyrias -- Prader-Willi syndrome -- Preimplantation genetic diagnosis -- Prenatal ultrasound -- Primary ciliary dyskinesia -- Primary familial brain calcification -- Primordial dwarfism -- Prion diseases -- Propionic acidemia -- Prostate cancer -- Protein C deficiency -- Protein S deficiency -- Proteus syndrome -- PRPS1 gene mutation--progessive hearing loss -- Prune-belly syndrome -- Pseudo-Gaucher disease -- Pseudoachondroplasia -- Pseudoxanthoma elasticum -- PTSD (post-traumatic stress disorder) -- Pulmonary arterial hypertension -- Pyloric stenosis -- Pyruvate carboxylase deficiency -- Pyruvate dehydrogenase complex deficiency -- Pyruvate kinase deficiency -- Race and genetics -- Raynaud's disease -- Recurrence risk counseling -- Refsum disease -- Renal agenesis -- Renal failure due to hypertension -- Renal-hepatic ciliopathy -- Renpenning syndrome -- Retinitis pigmentosa -- Retinoblastoma -- Rett syndrome -- Rheumatoid arthritis -- Rhizomelic chondrodysplasia punctata -- Rhodopsin -- Rieger syndrome -- RNA (Ribonucleic acid) -- Roberts SC phocomelia -- Robinow syndrome -- Rothmund-Thomson syndrome -- Rubinstein-Taybi syndrome -- Russell-Silver syndrome -- Saethre-Chotzen syndrome -- Schinzel-Giedion syndrome -- Schizophrenia -- Schwartz-Jampel syndrome -- Scleroderma -- Sclerosing bone dysplasias -- Scoliosis -- Seckel syndrome -- Selfish gene theory -- Septo-optic dysplasia -- Severe combined immunodeficiency -- Short-rib thoracic dysplasia with or without polydactyly -- Shprintzen-Goldberg craniosynostosis syndrome -- Sialidosis -- Sickle cell disease -- Simpson-Golabi-Behmel syndrome -- Single genome sequencing -- Sirenomelia -- Sjörgen-Larsson syndrome -- Skeletal dysplasia -- Smith-Fineman-Myers syndrome -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type 1 -- Spastic cerebral palsy -- Spina bifida -- Spinal and bulbar muscular atrophy -- Spinal muscular atrophy -- Spindle transfer technique -- Spinocerebellar ataxia -- Spinocerebellar ataxia 3 -- Spondyloepiphyseal dysplasia -- Spondyloepiphyseal dysplasia congenita -- SRY (sex-determining region Y) -- Stargardt disease -- Stem cells -- Steroid-resistant nephrotic syndrome type 2/galoway-Mowat syndrome -- Stickler syndrome -- Sturge-Weber syndrome -- Super Enhancers (SE) -- SWI/SNF-related autism syndrome -- Tangier disease -- TAR syndrome -- Tay-Sachs disease -- Teratogen -- Thalidomide embryopathy -- Thanatophoric dysplasia -- Thoracic aortic aneurysms -- Thyroid hormone resistance syndrome -- Tourette syndrome -- Treacher Collins syndrome -- Trichorhinophalangeal syndrome -- triosephosphate isomerase deficiency -- Triple X syndrome -- Triploidy -- Trismus-pseudocamptodactyly syndrome -- Trisomy 13 -- Trisomy 8 mosaicism syndrome -- Tuberous sclerosis complex -- Turner syndrome -- Twin reversed arterial perfusion (TRAP) sequence -- Urea cycle disorders -- Urogenital adysplasia syndrome -- Usher syndrome -- Van der Woude syndrome -- VATER association -- Viral variant -- Von Hippel-Lindau syndrome von Willebrand disease -- Waardenburg syndrome -- Walker-Warburg syndrome -- Weaver syndrome -- Weissenbacher-Zweymuller syndrome -- Werner syndrome -- Whole-exome and whole-genome sequencing -- Williams syndrome -- Wilson disease -- Wiskott-Aldrich syndrome -- Wolf-Hirschhorn syndrome -- Wolman disease -- X-linked intellectual disability -- X-linked severe combined immunodeficiency -- X-linked sideroblastic anemia -- Xeroderma pigmentosum -- XMEN -- XXXX Syndrome -- XXXXX syndrome -- XYY syndrome -- YY syndrome -- Zebrafish studies -- Zellweger spectrum -- Zimmermann-Laband syndrome -- Zinner syndrome -- Zygote. | |
| 520 | |a Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons. | ||
| 650 | 0 | |a Genetic disorders |0 https://id.loc.gov/authorities/subjects/sh87001834 |v Encyclopedias. |0 https://id.loc.gov/authorities/subjects/sh99001614 | |
| 650 | 0 | |a Diseases |0 https://id.loc.gov/authorities/subjects/sh85038411 |v Encyclopedias. |0 https://id.loc.gov/authorities/subjects/sh99001614 | |
| 655 | 7 | |a Encyclopedias. |2 lcgft |0 https://id.loc.gov/authorities/genreForms/gf2014026092 | |
| 700 | 1 | |a Narins, Brigham, |d 1962- |0 https://id.loc.gov/authorities/names/n99034731 |e editor. | |
| 710 | 2 | |a Gale (Firm) |0 https://id.loc.gov/authorities/names/no2008071348 | |
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