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Infant. --- Child. --- Heart Defects, Congenital. --- aangeboren afwijkingen --- Abnormality, Heart --- Congenital Heart Defect --- Congenital Heart Defects --- Defects, Congenital Heart --- Heart Defect, Congenital --- Heart, Malformation Of --- Heart Abnormalities --- Abnormalities, Heart --- Defect, Congenital Heart --- Heart Abnormality --- Heart --- Myocardium --- Cardiovascular Abnormalities --- Children --- Minors --- Infants --- abnormalities --- HEART DEFECTS, CONGENITAL, in infancy & childhood --- HEART DEFECTS, CONGENITAL, in infancy & childhood. --- Heart defects, congenital, in infancy & childhood. --- Congenital Heart Disease --- Congenital Heart Diseases --- Disease, Congenital Heart --- Heart Disease, Congenital --- Malformation Of Heart --- Malformation Of Hearts --- Infant --- Child --- Heart Defects, Congenital

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Musculoskeletal Diseases --- Congenital Abnormalities --- Musculoskeletal Physiological Phenomena --- Musculoskeletal and Neural Physiological Phenomena --- Diseases --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Phenomena and Processes --- Musculoskeletal Abnormalities --- Posture --- Surgery & Anesthesiology --- Health & Biological Sciences --- Surgery - General and By Type --- Postures --- Hypotension, Orthostatic --- Kinesics --- Patient Positioning --- Abnormalities, Musculoskeletal --- Abnormality, Musculoskeletal --- Musculoskeletal Abnormality --- Musculoskeletal System --- Disorders, Congenital --- Congenital Disorders --- Neonatal Diseases and Abnormalities --- Congenital Disorder --- Disorder, Congenital --- Musculoskeletal and Neural Physiological Concepts --- Musculoskeletal and Neural Physiological Phenomenon --- Musculoskeletal and Neural Physiology --- Musculoskeletal Physiologic Process --- Musculoskeletal Physiological Concepts --- Musculoskeletal Physiological Phenomenon --- Physiology, Musculoskeletal --- Musculoskeletal Physiologic Processes --- Musculoskeletal Physiological Process --- Musculoskeletal Physiological Processes --- Musculoskeletal Physiology --- Concept, Musculoskeletal Physiological --- Concepts, Musculoskeletal Physiological --- Musculoskeletal Physiological Concept --- Phenomena, Musculoskeletal Physiological --- Phenomenon, Musculoskeletal Physiological --- Physiologic Process, Musculoskeletal --- Physiologic Processes, Musculoskeletal --- Process, Musculoskeletal Physiologic --- Process, Musculoskeletal Physiological --- Processes, Musculoskeletal Physiologic --- Processes, Musculoskeletal Physiological --- Abnormalities, Congenital --- Defects, Congenital --- Birth Defects --- Congenital Defects --- Deformities --- Fetal Anomalies --- Fetal Malformations --- Abnormality, Congenital --- Anomaly, Fetal --- Birth Defect --- Congenital Abnormality --- Congenital Defect --- Defect, Birth --- Defect, Congenital --- Deformity --- Fetal Anomaly --- Fetal Malformation --- Malformation, Fetal --- Fetal Diseases --- Infant, Newborn, Diseases --- Teratogenesis --- Orthopedic Disorders --- Musculoskeletal Disease --- Orthopedic Disorder --- abnormalities --- physiology

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In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Genetic disorders --- Human chromosome abnormalities --- Molecular diagnosis --- Diagnosis. --- Genetic diagnosis --- Genetic testing --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Diseases --- Medical genetics --- Human genetics. --- Human Genetics. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology

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21 trisomy --- Acromicria [Congenital ] --- Congenital acromicria --- Down syndrome --- Down's syndrome --- Down-syndroom --- Erfelijkheidsleer --- Gehandicapten --- Gezondheidszorg --- Handicapés --- Hérédité --- Mongolism --- Mongolism (Disease) --- Mongolisme --- Soins de santé --- Syndrome de Down --- Trisomie 21 --- Trisomy 21 --- mongolisme --- tegemoetkomingen aan gehandicapten --- #SBIB:001.GIFTSOC --- #SBIB:316.334.3M20 --- #SBIB:316.8H11 --- Down syndroom --- mensen met een mentale beperking --- 616.2 --- 339.14 --- Sociale epidemiologie en etiologie: sociale aspecten van ziekte en gezondheid --- Welzijns- en sociale problemen: gehandicapten (fysiek, mentaal) --- Orthopedagogiek --- mentale stoornissen --- mentale stoornissen. --- Mentale stoornissen.

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Comprehensive Biochemistry, Volume 17: Carbohydrate Metabolism focuses on the processes, reactions, and transformations involved in the metabolism of carbohydrates, including glycosaminoglycans, enzymes, oxidation, and glycolysis. The selection first elaborates on functional organization contributing to carbohydrate economy and control of synthesis and breakdown of glycogen, starch, and cellulose.

Cell membranes --- Cell membranes. --- Cell surfaces --- Cytoplasmic membranes --- Plasma membranes --- Plasmalemma --- Membranes (Biology) --- Glycocalyces --- Amino acids --- Biological transport, active. --- Biochemistry --- Biochemistry. --- Biophysics. --- Dna repair. --- Dna replication. --- Dna --- Energy transfer. --- Energy metabolism --- Genetic code. --- Proteins --- Rna --- Sulfur --- Metabolism --- Disorders. --- Metabolism. --- History. --- Biosynthesis. --- Research --- 577.1 --- Biochimie --- History --- Histoire --- DNA --- DNA Repair. --- DNA Replication. --- Genetic Code. --- Protein Biosynthesis. --- RNA --- biosynthesis. --- Molecular biology --- General biochemistry --- History of natural sciences --- Philosophy --- Physics, chemistry, biology. --- General. --- history --- Vitamins --- Trace elements --- Accessory elements --- Microelements --- Micronutrients --- Minerals, Trace --- Minor elements --- Trace metals --- Trace minerals --- Agricultural chemicals --- Chemical elements --- Nutrition --- Avitaminosis --- DNA Repair --- DNA Replication --- Genetic Code --- Protein Biosynthesis --- Protein Biosynthesis, Ribosomal --- Protein Synthesis, Ribosomal --- Ribosomal Peptide Biosynthesis --- mRNA Translation --- Genetic Translation --- Peptide Biosynthesis, Ribosomal --- Protein Translation --- Translation, Genetic --- Biosynthesis, Protein --- Biosynthesis, Ribosomal Peptide --- Biosynthesis, Ribosomal Protein --- Genetic Translations --- Ribosomal Protein Biosynthesis --- Ribosomal Protein Synthesis --- Synthesis, Ribosomal Protein --- Translation, Protein --- Translation, mRNA --- mRNA Translations --- Peptide Biosynthesis --- Codon, Initiator --- Codon, Terminator --- Code, Genetic --- Codes, Genetic --- Genetic Codes --- Codon --- Histone Code --- Replication, Autonomous --- Autonomous Replication --- Autonomous Replications --- DNA Replications --- Replication, DNA --- Replications, Autonomous --- Replications, DNA --- DNA-Binding Proteins --- Virus Replication --- S Phase --- Base Excision Repair --- Excision Repair --- Nucleotide Excision Repair --- Base Excision Repairs --- Excision Repair, Base --- Excision Repair, Nucleotide --- Excision Repairs --- Nucleotide Excision Repairs --- Repair, Base Excision --- Repair, Excision --- Repairs, Base Excision --- DNA-Formamidopyrimidine Glycosylase --- DNA Repair Enzymes --- Targeted Gene Repair --- biosynthesis --- Issue --- 577.122 --- 577.122 Protein metabolism --- Protein metabolism --- metabolism --- Amino Acid Metabolism, Inborn Errors --- Amino Acids --- 577.1 <035> --- Metabolism&delete& --- Disorders --- Amino Acid Metabolism Disorders, Inborn --- Amino Acid Metabolism, Inborn Error --- Amino Acid Metabolism, Inherited Disorders --- Amino Acidopathies, Inborn --- Congenital Amino Acidopathies --- Inborn Errors, Amino Acid Metabolism --- Inherited Errors of Amino Acid Metabolism --- Amino Acidopathies, Congenital --- Amino Acidopathy, Congenital --- Amino Acidopathy, Inborn --- Congenital Amino Acidopathy --- Inborn Amino Acidopathies --- Inborn Amino Acidopathy --- Amino compounds --- Organic acids --- Peptides --- 577.1 <035> Chemical bases of life. Biochemistry and bio-organic chemistry generally--Grote handboeken. Compendia --- Chemical bases of life. Biochemistry and bio-organic chemistry generally--Grote handboeken. Compendia --- Amino acid metabolism --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies --- Molécules --- Molécules --- Sulphur - Metabolism --- Amino acids - Metabolism - Disorders --- Amino acids - Metabolism --- Amino Acids - metabolism --- Sulfur - metabolism --- Acides aminés --- metabolism. --- Métabolisme --- Bioenergetics --- Microbial respiration --- Carbohydrates --- Carbohydrate metabolism --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Composition --- Biochemistry - history --- Energy metabolism - Research - History --- Structure moléculaire --- Alchemy [not cas]