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Atlas of genetic diagnosis and counseling

Author: Harold Chen
Publisher: New York : Springer, ©2012.
Edition/Format:   eBook : Document : English : 2nd edView all editions and formats
Database:WorldCat
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Genre/Form: Electronic books
Atlases
Additional Physical Format: Print version:
Atlas of genetic diagnosis and counseling.
New York : Springer, c2012
(DLC) 2011942140
(OCoLC)751800943
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Harold Chen
ISBN: 9781461410379 1461410371
OCLC Number: 778885558
Description: 1 online resource (3 v.) : ill.
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.
Responsibility: [edited by] Harold Chen.
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