"Institutionalism" (SAGE 2007) captured a good deal of the literature at the time it was published; however, there have been numerous excellent contributions to the literature since that time. These newer articles merit another readily-available collection,...
2012, SAGE Publications Ltd...
Book, Hardback, 3 items/volumes
Handbook of Computational Chemistry...
The role the Handbook of Computational Chemistry is threefold. It is primarily intended to be used as a guide that navigates the user through the plethora of computational methods currently in use; it explains their limitations and advantages; and it ...
2012, Springer Netherlands...
Book, Hardback, 3 items/volumes
Early years literacy research represents the foundation of literacy education, influencing the trajectory of literacy development as far as the high school years. This collection features key discussions and debates about the application of particular methods within the field,...
2011, SAGE Publications Ltd...
Book, Hardback, 4 items/volumes
Bresinsky, Andreas; Korner, Christian;...
This famous book on botany was published for the first time in 1894 by Eduard Strasburger and his co-workers. The present edition is based on a translation of the 36th edition of the German "Strasburger" and contains additional contributions by renowned experts in the field....
2012, Springer Berlin
Book, 2 items/volumes
One central and enduring image of the social science researcher is of an individual who commits a great deal of time to collecting original, primary data from a field of enquiry. This approach is often underpinned by a sincerely held belief that key research ...
2012, SAGE Publications Ltd...
Book, Hardback, 4 items/volumes
Encyclopedia of Sustainability ...
Sustainability in environmental usage refers to the potential longevity of vital human ecological support systems, such as the planet's climate system, systems of agriculture, industry, forestry, fisheries and the ocean, and fresh water, together with the impact of human communities,...
2012, Springer New York
eBook, Epublication "content package", Electronic book, 12 items/volumes
Dorband, Bernd; Muller, Henriette;...
Handbook of Optical Systems: Metrology ...
Metrology of Optical Components ...
Herbert Gross, born in 1955, joined Carl Zeiss in 1982 after finishing his physics degree as specialist for optical design. Since 1995 he has been working as head of the department of optical design, while also teaching as a lecturer in Aalen and Lausanne. The new handbook is an intuitive,...
2012, Wiley-VCH
Book, Hardback
Critical and Primary Sources
Textiles: Critical and Primary Sources is a major multi-volume reference work that draws together 93 seminal texts on textiles. Textile culture stretches geographic, historical, methodological and disciplinary boundaries, and defies chronological ordering....
2012, A & C Black Publishers ...
Book, Quantity pack, 4 items/volumes
Islamic Philosophy, Science, Culture,...
Studies in Honor of Dimitri Gutas
Islamic intellectual thought is at the center of this collection of articles honoring Dimitri Gutas by friends, colleagues, and former students. The essays cover three main areas: the classical heritage and Islamic culture; classical Arabic science and philosophy;...
2011, Brill
Book, Hardback
Modern Crop Protection Compounds
This one-stop reference for everyone working in the agrochemical business is the leading reference in the field, with first-class authors from all major crop protection companies, including Bayer, Dow, Syngenta and BASF. In three volumes, one each on herbicides, fungicides and insecticides,...
2011, Wiley-VCH
Book, Hardback, 3 items/volumes
Oxford Dictionaries
The Oxford Latin Dictionary is the world's most authoritative dictionary of classical Latin, with comprehensive coverage of the language from its beginnings until AD 200. More than fifty years in the making, and originally published in a series of fascicles (parts) from 1968,...
2012, Oxford University ...
Book, Hardback
![[Set of Handbook and Bibliography]](/annot/426F6F6B446174617C7C393738333131303237323732377C7C434F50.jpg?sq=1 "Villars, Pierre; Cenzual, Karin; Penzo, Marinella")
Villars, Pierre; Cenzual, Karin;...
[Set of Handbook and Bibliography]
Since the discovery of X-ray diffraction in 1913 over 100.000 different inorganic substances (also called compounds or phases) have been structurally characterized. The information has been published in over 72.000 publications spread over 1.000 different scientific journals....
2011, de Gruyter
Book, Hardback, 3 items/volumes
Risk has become one of the main topics in fields as diverse as engineering, medicine and economics, and it is also studied by social scientists and psychologists. But the topic of Risk also leads to more fundamental questions such as: What is Risk? What can decision theory contribute to the analysis of Risk?...
2012, Springer Netherlands...
Book, Hardback, 2 items/volumes
Chen, Harold
Atlas of Genetic Diagnosis and ...
Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects,...
2011, Springer, Berlin
Book, Hardback, 3 items/volumes
Collection: Power and Organizations ...
Power theory, as a burgeoning field of study, has had, and continues to have, a huge impact across the social sciences. In particular, there has been considerable innovative work in the fields of organization studies and politics which in turn has fed research in a wide array of related fields,...
2012, SAGE Publications Ltd...
Book, Hardback, 8 items/volumes
Reports of Overseas Private Investment ...
This comprehensive two-volume work is a collection of determinations from OPIC, the US governmental political risk insurance provider, in the form of its Memoranda of Determinations from 1966 through to 2010. An important part of international investment ...
2011, Oxford University ...
Book, Hardback, 2 items/volumes
Berghaus, Gunter; Berghaus, G Nter
International Futurism 1945-2009
A Bibliographic Handbook
Dieser Band enthält eine umfassende bibliographische Aufbereitung von über 25.000 Publikationen und ist als Orientierunghilfe konzipiert für Studenten und Forscher, die Monogaphien und Aufsätze zu den bedeutensten Künstlern und Literaten der futuristischen Kunstbewegung suchen....
2012, de Gruyter
Book, Hardback
HOME
MANAGE ORDERS
Dietmar Dreier
Wissenschaftliche Versandbuchhandlung GmbH
International Library Suppliers
Bernhard-Roecken-Weg 1
D – 47228 Duisburg
EUR 555,33
GBP 467,50
USD 699,00
(non-binding price)
|
|
Bibliographic data: Publisher: Springer, Berlin published in: New York, NY, US ISBN: 978-1-4614-1036-2 Edition: 2nd ed. 2012 Pages: 2284 Language: English (en) Size: Width [193 mm] Height [260 mm] Depth [112 mm] Weight: 5897 gram Product Type: Book Binding: Hardback, 3 items/volumes Publication Year: 2011
Please ask for a special offer 6D656E672E6B697440646965746D61726472656965722E64656D656E672E6B697440646965746D61726472656965722E6465
Last Update: 04/12/2012 19:43:55 |
|
Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.
Summary Dr. Chen shares his decades of clinical genetics practice in this comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. This completely revised new edition includes new disorders and extensive updates. Table of Content Acardia Achondrogenesis Achondroplasia Adams-Oliver syndrome Agnathia Aicardi syndrome Alagille syndrome Albinism Alpha thalassemia-mental retardation (ATR-X) syndrome Ambiguous genitalia Amniotic deformity, adhesions, mutilations (ADAM) syndrome 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 (BPES) Body stalk anomaly Brachydactyly Branchial cleft cyst Calcinosis cutis Campomelic dysplasia Carpenter syndrome Cat-eye syndrome Celiac disease Cerebral palsy Cerebro-costo-mandibular syndrome Charcot-Marie-Tooth disease CHARGE association Cherubism Chiari malformation Chondrodysplasia punctata Chromosome abnormalities in pediatric solid tumors Cleft lip/palate Cleidocranial dysplasia Cloacal exstrophy Clubfoot (talipes equinovarus) Collodion baby Congenital adrenal hyperplasia Congenital cutis laxa Congenital cytomegalovirus infection Congenital generalized lipodystrophy Congenital hemihyperplasia (congenital hemihypertrophy) 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 (X-linked lymphoproliferative disease) Dyschondrosteosis/Langer mesomelic dysplasia Dysmelia (limb deficiency/reduction) Dysplasia epiphysealis hemimelica Dystonia Dystrophinopathies EEC syndrome Ehlers-Danlos syndrome Ellis-van Creveld syndrome Enchondromatosis Epidermolysis bullosa Epidermolytic palmoplantar keratoderma Faciogenital (Aarskog) syndrome Facioscapulohumeral muscular dystrophy (FSH) Familial adenomatous polyposis syndrome Familial hyperlysinemia Familial Mediterranean fever Fanconi anemia Femoral hypoplasia-unusual facies syndrome Fetal akinesia syndrome Fetal alcohol syndrome Fetal hydantoin syndrome Fibrodysplasia ossificans progressiva Finlay-Marks syndrome Floppy infant Fragile X syndrome Fraser syndrome Freeman-Sheldon (whistling face) syndrome Friedreich ataxia Frontonasal dysplasia Galactosemia Gastroschisis Gaucher disease Generalized arterial calcification Genitopatellar syndrome Giant congenital melanocytic nevi (giant congenital nevi) Glucose-6-phosphate dehydrogenase deficiency Glycogen storage disease, type II (Pompe) Goldenhar syndrome Gorlin (nevoid basal cell carcinoma) syndrome Greig cephalopolysyndactyly syndrome Hallermann-Streiff syndrome Harlequin fetus Hemophilia A Hereditary hearing loss Hereditary hemochromatosis Hereditary multiple exostosis Herlyn-Werner-Wunderlich syndrome Holoprosencephaly Holt-Oram syndrome Huntington disease Hydrolethalus syndrome Hydrops fetalis Hyper-IgE syndrome Hypochondroplasia Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome Hypohidrotic ectodermal dysplasia Hypomelanosis of Ito Hypophosphatasia Hypopituitarism I(1p),I(1q) syndrome Isodic(Yq) syndrome Incontinentia pigmenti Infantile myofibromatosis Ivemark syndrome Jarcho-Levin syndrome Joubert syndrome Kabuki syndrome Kassback-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 (van der Knaap disease) Menkes disease Metachromatic leukodystrophy Miller-Dieker syndrome Mitochondrial Leber hereditary optic neuropathy Mobius syndrome Mowat-Wilson Disease Mucolipidosis II (I-cell disease) Mucolipidosis III (pseudo-Hurler Polydystrophy) MPS I (Hurler syndrome) MPS II (Hunter syndrome) MPS III (Sanfilippo syndrome) MPS IV (Morquio syndrome) MPS VI (Maroteaux-Lamy syndrome) Multiple endocrine neoplasia Syndrome Multiple epiphyseal dysplasia Multiple pterygium syndrome Myotonic dystrophy Nail-Patella Syndrome (hereditary Osteo-onychodysplasia) Neonatal Herpes simplex infection Nephrogenic diabetes insipidus Netherton syndrome Neu-Laxova syndrome Neural tube defects Neurofibromatosis 1 Neurofibromatosis 2 Noonan syndrome Oblique facial cleft syndrome Oligohydramnios sequence Omphalocele Oro-Facial-Digital Syndrome Osteogenesis imperfecta Osteopetrosis Osteopoikilosis Otopalatodigital spectrum disorders Pachyonychia congenita Pallister-Killian syndrome Phenylketonuria (PKU) Pierre Robin sequence Polycystic kidney disease, AD form Polycystic kidney disease, AR form 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 synostosis associated with chromosome abnormalities Schizencephaly Schmid metaphyseal chondrodystrophy Seckel syndrome Severe combined immune deficiency Short rib polydactyly syndromes (SRPS) Sickle cell disease Silver-Russell syndrome Sirenomelia Smith-Lemli-Optiz syndrome Smith-Magenis syndrome Sotos syndrome Spinal muscular atrophy Spondyloepiphyseal dysplasia Stickler syndrome Sturge-Weber syndrome Tay-Sachs disease Tetrasomy 9p syndrome Thalassemia Thanatophoric dysplasia Thrombocytopenia-absent radius (TAR) syndrome Treacher-Collins syndrome Trimethylaminuria Triploidy Trismus pseudocamptodactyly (Hecht syndrome) Trisomy 8 mosaicism (Warkany) syndrome Trisomy 13 syndrome Trisomy 18 syndrome Tuberous sclerosis Turner syndrome Twin-twin transfusion syndrome Ulnar-mammary syndrome Urofacial (Ochoa) Syndrome VATER (VACTERL) associationVon Hippel-Lindau disease Waardenburg syndrome Weill-Marchesani syndrome Williams syndrome Wolf-Hirschhorn syndrome X-linked agammaglobulinemia (Bruton type) X-linked ichthyosis XX Male XXX syndrome XXXXX syndrome XXXXY syndrome XY female XYY syndrome |
|
Book,
Hardback
2005
EUR 255,73
Non-Books,
HTML,
CD-ROM
2005
EUR 184,39
NEWSLETTER SERVICE
Please subscribe to our Newsletter keeping you regularly informed on new publications in the different subjects that you have preselected.
6E6575657273636865696E756E67736469656E737440646965746D61726472656965722E6465636F6E74696E7565