The Gale encyclopedia of genetic disorders

Publisher:

Gale

Publication Date:

[2022]

Edition:

Fifth edition

Language:

English

CCU Electronic Resources

Pub. Date	Source	Edition	Publisher	Content Desc.	Availability
[2022]	CCU Owned	Fifth edition	Gale	1 online resource (3 volumes (xxiv, 2296 pages)) : color illustrations.	Available Online CCU Electronic Resources	More Info Access 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.

Subjects

Diseases
Diseases -- Encyclopedias
Encyclopedia
Encyclopedias
Genetic Diseases, Inborn
Genetic disorders
Genetic disorders -- Encyclopedias
Genetic Predisposition to Disease
Genetics, Medical
Génétique médicale
Génétique médicale -- Encyclopédies
Maladies
Maladies -- Encyclopédies
Medical genetics
Medical genetics -- Encyclopedias

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From the CCU Owned eBook - Fifth edition
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 --
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.
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.

More Details

Contributors:

Narins, Brigham,1962-editor
Narins, Brigham,1962-
Gale (Firm)

ISBN:

9781414403656
9781414403670
9780028683942
9781414403663

Staff View

Grouping Information

Grouped Work ID	28e67ad7-9834-186d-3539-e9fcd0424c60
Grouping Title	gale encyclopedia of genetic disorders
Grouping Author	brigham narins
Grouping Category	book
Grouping Language	English (eng)
Last Grouping Update	2024-11-16 05:40:18AM
Last Indexed	2024-11-22 23:28:50PM

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Narins, Brigham, 1962-

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Gale (Firm)
Narins, Brigham,1962-
Narins, Brigham,1962-editor

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CCU Electronic Resources

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CCU Electronic Resources

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eBook

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9781414403656
9781414403663
9781414403670

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Colorado Christian University Online

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CCU Electronic Resources

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9781414403656

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2005
2022

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Gale
Thomson Gale

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grouped_work

subject_facet

Diseases -- Encyclopedias
Encyclopedia
Encyclopedias
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic disorders -- Encyclopedias
Genetics, Medical
Génétique médicale -- Encyclopédies
Maladies -- Encyclopédies
Medical genetics -- Encyclopedias

title_display

The Gale encyclopedia of genetic disorders

title_full

The Gale encyclopedia of genetic disorders / Brigham Narins, editor

title_short

The Gale encyclopedia of genetic disorders

topic_facet

Diseases
Genetic Diseases, Inborn
Genetic Predisposition to Disease
Genetic disorders
Genetics, Medical
Génétique médicale
Maladies
Medical genetics

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external_econtent:ils:.b67186877	eBook	eBook	Fifth edition	English	Gale	[2022]	1 online resource (3 volumes (xxiv, 2296 pages)) : color illustrations.
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The Gale encyclopedia of genetic disorders

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From the CCU Owned eBook - Fifth edition

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