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|a EBLCP
|b eng
|c EBLCP
|d OCLCQ
|d EBLCP
|d OCLCQ
|d OCLCO
|d OCLCQ
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| 020 |
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|a 9781118293713
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|a 1118293711
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|a (OCoLC)1347026043
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|a 616/.042
|q OCoLC
|2 22/eng/20230216
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| 049 |
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|a UAMI
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| 100 |
1 |
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|a Tobias, Edward S.
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| 245 |
1 |
0 |
|a Essential Medical Genetics
|h [electronic resource].
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| 260 |
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|a Newark :
|b John Wiley & Sons, Incorporated,
|c 2011.
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| 300 |
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|a 1 online resource (345 p.).
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| 490 |
1 |
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|a New York Academy of Sciences Ser. ;
|v v.22
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| 500 |
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|a Description based upon print version of record.
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| 505 |
0 |
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|a Intro -- Title page -- Table of Contents -- Preface -- Acknowledgements -- How to get the best out of your textbook -- Part 1: Basic Principles -- Medical genetics in perspective -- Scientific basis of medical genetics -- Clinical applications of medical genetics -- The human genome -- Structure and organisation of the genome -- Gene identification -- The Human Genome Project -- Nucleic acid structure and function -- Nucleic acid structure -- Nucleic acid function -- Gene regulation -- DNA replication -- Mutation types, effects and nomenclature -- DNA analysis -- Basic methods
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| 505 |
8 |
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|a Mutation detection -- Indirect mutant gene tracking -- Analysis of DNA length polymorphisms -- Analysis of single nucleotide polymorphisms -- Chromosomes -- Chromosome structure -- Chromosome analysis -- Chromosome heteromorphisms -- Chromosomes in other species -- Mitochondrial chromosomes -- Mitosis -- Gametogenesis -- Meiosis -- Spermatogenesis -- Oogenesis -- Fertilisation -- X-inactivation and dosage compensation -- Sex chromosome aberrations -- Sex determination and differentiation -- Genomic imprinting (parental imprinting) -- Chromosome aberrations -- Numerical aberrations
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| 505 |
8 |
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|a Structural aberrations -- Cytogenetic and molecularm ethods for the detection of chromosomal aberrations -- Identification of the chromosomal origin of complex structural rearrangements -- Typical mendelian inheritance -- Introduction to autosomal single-gene inheritance -- Autosomal dominant inheritance -- Autosomal recessive inheritance -- Introduction to sex linked inheritance -- X-linked recessive inheritance -- X-linked dominant inheritance -- Y-linked inheritance (holandric inheritance) -- Atypical mendelian inheritance -- Genetic anticipation -- Pseudoautosomal inheritance
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| 505 |
8 |
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|a Autosomal dominant inheritance with sex limitation -- Pseudodominant inheritance -- X-linked dominant inheritance with male lethality -- Mosaicism -- Modifier genes and digenic inheritance -- Uniparental disomy -- Imprinting disorders -- Non-mendelian inheritance -- Multifactorial disorders -- Mitochondrial disorders -- Somatic cell genetic disorders -- Medical genetics in populations -- Selection for single-gene disorders -- Founder effect and genetic drift for single-gene disorders -- Altered mutation rate for single-gene disorders -- Linkage analysis and the International HapMap Project
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| 505 |
8 |
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|a Human population evolution and migration -- Part 2: Clinical Applications -- Genetic assessment, genetic counselling and reproductive options -- Communication of advice -- Special points in counselling -- Prenatal diagnosis -- Amniocentesis -- Chorionic villus sampling -- Cordocentesis, fetal skin biopsy and fetal liver biopsy -- Ultrasonography -- Fetal cells in the maternal circulation -- Free fetal DNA and RNA detection -- Preimplantation genetic diagnosis -- Family history of cancer -- General principles -- Tumour suppressor genes -- Genes involved in DNA repair mechanisms -- Oncogenes
|
| 500 |
|
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|a Other cancer-related genes
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| 590 |
|
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|a ProQuest Ebook Central
|b Ebook Central Academic Complete
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| 655 |
|
0 |
|a Electronic books.
|
| 776 |
0 |
8 |
|i Print version:
|a Tobias, Edward S.
|t Essential Medical Genetics
|d Newark : John Wiley & Sons, Incorporated,c2011
|z 9781405169745
|
| 830 |
|
0 |
|a New York Academy of Sciences Ser.
|
| 856 |
4 |
0 |
|u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=7103494
|z Texto completo
|
| 938 |
|
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|a ProQuest Ebook Central
|b EBLB
|n EBL7103494
|
| 994 |
|
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|a 92
|b IZTAP
|
