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E-book

Title Atlas of genetic diagnosis and counseling / [edited by] Harold Chen
Edition Second edition
Published New York : Springer, [2012]
©2012
Online access available from:
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Description 1 online resource (3 volumes) : illustrations
Contents Acardia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver Syndrome -- Agnathia -- Aicardi Syndrome -- Alagille Syndrome -- Albinism -- Alpha-Thalassemia X-linked Mental Retardation Syndrome -- Ambiguous Genitalia -- Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex -- Androgen Insensitivity Syndrome -- Angelman Syndrome -- Apert Syndrome -- Aplasia Cutis Congenita -- Arthrogryposis Multiplex Congenita -- Asphyxiating Thoracic Dystrophy -- Ataxia-Telangiectasia -- Atelosteogenesis -- Autism -- Bannayan-Riley-Ruvalcaba Syndrome -- Beckwith-Wiedemann Syndrome -- Behcet Disease -- Biotinidase Deficiency -- Bladder Exstrophy -- Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome -- xiii -- Body Stalk Anomaly -- Brachydactyly -- Branchial Cleft Anomalies -- Calcinosis Cutis -- Campomelic Dysplasia -- Carpenter Syndrome -- Cat Eye Syndrome -- Celiac Disease -- Cerebral Palsy -- Cerebro-Costo-Mandibular Syndrome -- Charcot-Marie-Tooth Disease
CHARGE Syndrome -- Cherubism -- Chiari Malformation -- Chondrodysplasia Punctata -- Chromosome Abnormalities in Pediatric Solid Tumors -- Cleft Lip and/or Cleft Palate -- Cleidocranial Dysplasia -- Cloacal Exstrophy -- Clubfoot -- Collodion Baby -- Congenital Adrenal Hyperplasia -- Congenital Cutis Laxa -- Congenital Cytomegalovirus Infection -- Congenital Generalized Lipodystrophy -- Congenital Hemihyperplasia -- Congenital Hydrocephalus -- Congenital Hypothyroidism -- Congenital Muscular Dystrophy -- Congenital Toxoplasmosis -- Conjoined Twins -- Corpus Callosum Agenesis/Dysgenesis -- Craniometaphyseal Dysplasia -- Cri-Du-Chat Syndrome -- Crouzon Syndrome -- Cutis Marmorata Telangiectatica Congenita -- Cystic Fibrosis -- Dandy-Walker Malformation -- De Lange Syndrome -- Del(18p) Syndrome -- Del(22q11.2) Syndrome -- Del(Yq) Syndrome -- Diabetic Embryopathy -- Down Syndrome -- Duncan Syndrome -- Dyschondrosteosis -- Dysmelia -- Dysplasia Epiphysealis Hemimelica
Dystonia -- Dystrophinopathies -- Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome -- Ehlers-Danlos Syndrome -- Ellis-van Creveld Syndrome -- Enchondromatosis -- Epidermolysis Bullosa -- Epidermolytic Palmoplantar Keratoderma -- Faciogenital (Faciodigitogenital) Dysplasia -- Facioscapulohumeral Muscular Dystrophy -- Familial Adenomatous Polyposis -- Familial Hyperlysinemia -- Familial Mediterranean Fever -- Fanconi Anemia -- Femoral Hypoplasia -- Unusual Facies Syndrome -- Fetal Akinesia Deformation Sequence -- Fetal Alcohol Spectrum Disorders -- Fetal Hydantoin Syndrome -- Fibrodysplasia Ossificans Progressiva -- Finlay-Marks Syndrome -- Floppy Infant -- Fragile X Syndrome -- Fraser Syndrome -- Freeman-Sheldon Syndrome -- Friedreich Ataxia -- Frontonasal Dysplasia -- Galactosemia -- Gastroschisis -- Gaucher Disease -- Generalized Arterial Calcification of Infancy -- Genitopatellar Syndrome -- Giant Congenital Melanocytic Nevi -- Glucose-6-Phosphate Dehydrogenase Deficiency
Glycogen Storage Disease, Type II -- Goldenhar Syndrome -- Gorlin Syndrome -- Greig Cephalopolysyndactyly Syndrome -- Hallermann-Streiff Syndrome -- Harlequin Ichthyosis -- Hemophilia A -- Hereditary Hearing Loss -- Hereditary Hemochromatosis -- Hereditary Multiple Exostoses -- Herlyn-Werner-Wunderlich Syndrome -- Holoprosencephaly -- Holt-Oram Syndrome -- Huntington Disease -- Hydrolethalus Syndrome -- Hydrops Fetalis -- Hyper-IgE Syndrome -- Hypochondroplasia -- Hypoglossia-Hypodactylia Syndrome -- Hypohidrotic Ectodermal Dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Hypopituitarism -- I(1p), I(1q) Syndrome -- Idic(Yq) Syndrome -- Incontinentia Pigmenti -- Infantile Myofibromatosis -- Ivemark Syndrome -- Jarcho-Levin Syndrome -- Joubert Syndrome -- Kabuki Syndrome -- Kasabach-Merritt Syndrome -- KID Syndrome -- Klinefelter Syndrome -- Klippel-Feil Syndrome -- Klippel-Trenaunay Syndrome -- Kniest Dysplasia -- Larsen Syndrome
LEOPARD Syndrome -- Lesch-Nyhan Syndrome -- Lethal Multiple Pterygium Syndrome -- Loeys-Dietz Syndrome -- Lowe Syndrome -- Marfan Syndrome -- McCune-Albright Syndrome -- Meckel-Gruber Syndrome -- Megalencephalic Leukoencephalopathy with Subcortical Cysts -- Menkes Disease -- Metachromatic Leukodystrophy -- Miller-Dieker Syndrome -- Mitochondrial Leber Hereditary Optic Neuropathy -- Möbius Syndrome -- Mowat-Wilson Syndrome -- Mucopolysaccharidosis I (MPS I) -- Mucopolysaccharidosis II -- Mucopolysaccharidosis III -- Mucopolysaccharidosis IV -- Mucopolysaccharidosis VI -- Mucolipidosis II -- Mucolipidosis III -- Multiple Endocrine Neoplasia Syndromes -- Multiple Epiphyseal Dysplasia -- Multiple Pterygium Syndrome -- Myotonic Dystrophy Type I -- Nail-Patella Syndrome -- Neonatal Herpes Simplex Infection -- Nephrogenic Diabetes Insipidus -- Netherton Syndrome -- Neu-Laxova Syndrome -- Neural Tube Defects -- Neurofibromatosis I -- Neurofibromatosis 2
Noonan Syndrome -- Oblique Facial Cleft Syndrome -- Oligohydramnios Sequence -- Omphalocele -- Oral-Facial-Digital Syndrome -- Osteogenesis Imperfecta -- Osteopetrosis -- Osteopoikilosis -- Otopalatodigital Spectrum Disorders -- Pachyonychia Congenita -- Pallister-Killian Syndrome -- Phenylketonuria -- Pierre Robin Sequence -- Polycystic Kidney Disease, Autosomal Dominant Type -- Polycystic Kidney Disease: Autosomal Recessive Type -- Popliteal Pterygium Syndrome -- Prader-Willi Syndrome -- Progeria -- Prune Belly Syndrome -- Pseudoachondroplasia -- R(18) Syndrome -- Retinoid Embryopathy -- Rett Syndrome -- Rickets -- Rigid Spine Syndrome -- Roberts Syndrome -- Robinow Syndrome -- Rubinstein-Taybi Syndrome -- Saethre-Chotzen Syndrome -- Sagittal Craniosynostosis Associated with Chromosome -- Abnormalities with a Brief Review on Craniosynostosis -- Schizencephaly -- Schmid Metaphyseal Chondrodysplasia -- Seckel Syndrome -- Severe Combined Immune Deficiency
Short Rib-Polydactyly Syndromes -- Sickle Cell Disease -- Silver-Russell Syndrome -- Sirenomelia -- Smith-Lemli-Opitz Syndrome -- Smith-Magenis Syndrome -- Sotos Syndrome -- Spinal Muscular Atrophy -- Spondyloepiphyseal Dysplasia -- Stickler Syndrome -- Sturge-Webber Syndrome -- Tay-Sachs Disease -- Tetrasomy 9p Syndrome -- Thalassemia -- Thanatophoric Dysplasia -- Thrombocytopenia-Absent Radius Syndrome -- Treacher-Collins Syndrome -- Trimethylaminuria -- Triploidy -- Trismus-Pseudocamptodactyly Syndrome -- Trisomy 8 Mosaicism Syndrome -- Trisomy 13 Syndrome -- Trisomy 18 Syndrome -- Tuberous Sclerosis -- Turner Syndrome -- Twin-Twin Transfusion Syndrome -- Ulnar-Mammary Syndrome -- Urofacial Syndrome -- VATER (VACTERL) Association -- Von Hippel-Lindau Disease -- Waardenburg Syndrome -- Weill-Marchesani Syndrome -- Williams Syndrome -- Wolf-Hirschhorn Syndrome -- X-Linked Agammaglobulinemia -- X-Linked Ichthyosis -- XX Male -- XXX Syndrome -- XXXXX Syndrome -- XXXXY Syndrome -- XY Female -- XYY Syndrome
Bibliography Includes bibliographical references
Subject Genetic disorders -- Diagnosis -- Atlases.
Genetic counseling -- Atlases.
Genetic Diseases, Inborn.
Genetic Counseling.
Prenatal Diagnosis.
Genre/Form Scientific atlases.
Atlas.
Atlases.
Form Electronic book
Author Chen, Harold.
ISBN 9781461410379 (e-ISBN)
1461410371 (e-ISBN)
9781461410386 (print and electronic bundle)
146141038X (print and electronic bundle)
(alk. paper)
(alk. paper)