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LEADER 00000cam 2200517 i 4500
003 MiFhGG
005 20190911100041.0
006 m o d
007 cr un ---uuuua
008 150708t20162016miua obe 001 0 eng d
020 9781410332806|q(electronic book)
020 |z9781410332813|q(set : alk. paper)
020 |z9781410332820|q(volume 1 : alk. paper)
020 |z9781410332837|q(volume 2 : alk. paper)
020 |z9781410332844|q(volume 3 : alk. paper)
035 (OCoLC)941831042
040 MiFhGG|beng|cMiFhGG|erda|epn
082 00 616/.04203
082 00 616/.04203|223
099 Gale eBooks
245 04 The Gale encyclopedia of genetic disorders /|cTracie Moy,
editor, Laura Avery, editor.||h[Gale electronic resource]
246 1 Encyclopedia of genetic disorders
250 Fourth edition.
264 1 Farmington Hills, Mich. :|bGale, Cengage Learning,|c[2016]
264 4 |c©2016
300 1 online resource (3 volumes) :|billustrations (chiefly
color)
336 text|btxt|2rdacontent
337 computer|bc|2rdamedia
338 online resource|bcr|2rdacarrier
490 0 Gale eBooks
504 Includes bibliographical references and index.
505 0 18p deletion syndrome -- 18q deletion syndrome -- 22q11.2
deletion syndrome -- 22q13 deletion syndrome -- 3-m
syndrome -- 13-methylglutaconic aciduria type 2 -- 46,xx
testicular disorder of sex development -- Aarskog syndrome
-- Abetalipoproteinemia -- Absence of vas deferens --
Accutane embryopathy -- Aceruloplasminemia --
Achondrogenesis -- Achondroplasia -- ACHOO syndrome --
Acrocallosal syndrome (ACLS) Schinzel type-Joubert
syndrome and related disorders -- Acromegaly -- Adams-
Oliver syndrome -- Adelaide-type craniosynostosis --
Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy
-- Agenesis 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 -- Alstrom 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 -- Autosomal dominant multiple
pterygium syndrome -- AUTS2 syndrome -- Bardet-biedl
syndrome -- Beare-Stevenson cutis gyrata syndrome --
Beckwith-Wiedemann syndrome -- Beta thalassemia --
Bicuspid aortic valve -- Biotinidase deficiency -- Bipolar
disorder -- Birt-Hogg-Dube syndrome -- Bloom syndrome --
Blue rubber bleb nevus syndrome -- Brachydactyly --
Branchiootonglyrenal (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 -- 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 macrosomia --
Craniosynostosis -- Creutzfeldt-Jakob disease -- Cri du
chat syndrome -- CRISPR/Cas -- Crohn's disease -- Crouzon
syndrome -- Crouzonodermoskeletal syndrome -- Cystic
brosis -- Cystinosis -- Cystinuria -- Dandy-walker
malformation -- De novo -- Ementia, hereditary forms --
Dent disease -- Dentatorubral-pallidoluysian atrophy --
Depression -- Diabetes -- Diamond-Blackfan anemia --
Diastrophic dysplasia -- DNA (deoxyribonucleic acid) --
Donohue syndrome -- Down syndrome -- Duane retraction
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 -- Epilepsy -- Erythropoietic
porphyria -- Erythropoietic protoporphyria -- Essential
hypertension -- Essential tremor -- Exome sequencing --
505 8 Fabry disease -- Facioscapulohumeral muscular dystrophy --
Factor V Leiden thrombophilia -- Familial adenomatous
polyposis -- Familial dysautonomia -- Familial idiopathic
basal ganglia calcification -- Familial lipoprotein iipase
deficiency -- Familial Mediterranean fever -- Fanconi
anemia -- Fanconi-Bickel syndrome -- Feingold syndrome --
Fetal alcohol syndrome -- 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 --
Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene
-- Gene fusion -- Gene mutations -- Gene panel testing --
Gene pool -- Gene therapy -- Genetic counseling -- Genetic
disorders -- Genetic information nondiscrimination act
(GINA) -- Genetic mapping -- Genetic testing -- Genetics
and congenital anomalies -- Genome -- Genome sequencing --
Genome- and epigenome-wide association studies -- Genotype
and phenotype -- Genotype tissue expression project (GTEX)
-- Giant congenital melanocytic nevus -- Glanzmann
thrombasthenia -- Glaucoma -- 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 -- 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 -
- Hermaphroditism -- Hirschsprung disease --
Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria
-- Human genome project -- Huntington's disease --
Hutchinson-Gilford progeria syndrome -- Hydrocephalus --
Hydrolethalus syndrome 1 (HLS1) -- Hydrops fetalis --
Hyperlipoproteinemia -- Hyperoxaluria --
Hyperphenylalaninemia -- Hypochondrogenesis --
Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia
-- Hypospadias and epispadias -- Ichthyosis -- Imprinting
-- Incontinentia pigmenti -- Inheritance -- Inherited
arrhythmia -- Jackson-Weiss syndrome -- Jacobsen syndrome
-- Jervell and Lange-Nielsen syndrome -- Joubert syndrome
-- Kabuki syndrome -- Kallmann syndrome -- 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 --
Lebers hereditary optic atrophy -- Leigh syndrome -- Lesch
-Nyhan syndrome -- Leukodystrophy -- Li-Fraumeni syndrome
-- Limb-girdle muscular dystrophy -- 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-Gruber syndrome -- Meckel's
diverticulum -- Menkes syndrome -- Metaphyseal dysplasia -
- Methemoglobinemia, beta-globin type -- Methylmalonic
acidemia -- Micro syndrome -- Microbiome -- Microcephaly
(childhood) -- Microcephaly and hypomyelination --
Microcephaly with spastic diplegia -- Microphthalmia with
linear skin defects -- Miller-Dieker syndrome --
Mitochondrial disease -- Moebius syndrome -- Monosomy 1p36
syndrome -- Mowat-Wilson syndrome -- Moyamoya --
Mucolipidosis -- Mucopolysaccharidoses -- Muir-Torre
syndrome -- Multifactorial inheritance -- Multiple
endocrine neoplasia -- Multiple epiphyseal dysplasia --
Multiple lentigines syndrome -- Multiple sclerosis --
Multiplex ligation-dependent probe amplification --
Muscular dystrophy -- Myasthenia gravis -- MYH9-related
disorders -- Myopia -- Myotonia congenita -- Myotonic
dystrophy -- 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 -- Noonan syndrome -
- Norrie disease -- Obesity -- Oculodentodigital syndrome
-- Oligohydramnios sequence -- Omphalocele -- Oncogene --
Opitz syndrome -- Oral-facial-digital syndrome -- Organic
acidemias -- Ornithine transcarbamylase deficiency --
Osteoarthritis -- Osteogenesis imperfecta -- Osteoporosis
-- Osteosarcoma -- Otopalatodigital syndrome -- Ovarian
cancer --
505 8 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
developmental disorders -- Peutz-Jeghers syndrome --
Pfeiffer syndrome -- Pharmacogenetics -- Phenylketonuria
(PKU) -- Pierre-Robin sequence -- Poland anomaly --
Polycystic kidney disease -- Polycystic ovary syndrome --
Polydactyly -- 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, progressive 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 -- Raynaud's disease -- 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 -- Sjogren-Larsson
syndrome -- Skeletal dysplasia -- Smith-Fineman-Myers
syndrome -- Smith-Lemli-Opitz syndrome -- Smith-Magenis
syndrome -- Sotos syndrome -- SPARCA1 spectrin-associated
autosomal recessive cerebellar ataxia type1 -- Spastic
cerebral palsy -- Spina bifida -- Spinal and bulbar
muscular atrophy -- Spinal muscular atrophy --
Spinocerebellar ataxia -- Spinocerebellar ataxia 3 --
Spondyloepiphyseal dysplasia -- Spondyloepiphyseal
dysplasia congenita -- SRY (sex-determining region Y) --
Stargardt disease -- Steroid-resistant nephrotic syndrome
type 2/Gallowaymowat 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 -- Triose phosphate
isomerase deficiency -- Triple X syndrome -- Triploidy --
Trismus-pseudocamptodactyly syndrome -- Trisomy 8
mosaicism syndrome -- Trisomy 13 -- 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 -- Von Hippel-
Lindau syndrome -- Von Willebrand disease -- Waardenburg
syndrome -- Walker-Warburg syndrome -- Weaver syndrome --
Weissenbacher-Zweymuller syndrome -- Werner syndrome --
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 -- Zellweger
spectrum -- Zimmermann-Laband syndrome -- Zinner syndrome
-- Zygote.
520 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.
588 Description based on print version record.
650 0 Diseases|vEncyclopedias.
650 0 Genetic disorders|vEncyclopedias.
650 0 Medical genetics|vEncyclopedias.
700 1 Moy, Tracie,|d1977-|eeditor.
700 1 Avery, Laura,|d1972-|eeditor.
710 2 Gale (Firm)
776 08 |iPrint version:|tGale encyclopedia of genetic disorders.
|dFarmington Hills, Mich : Gale, Cengage Learning, [2016]
|z9781410332813|w(DLC) 2015026923
856 40 |uhttps://ezproxy.naperville-lib.org/login?URL=https://
link.gale.com/apps/pub/8TYQ/GVRL?sid=gale_marc&
u=napervillepl|zAvailable on Gale eBooks