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01780nam a22002895i 4500 |
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978-1-59259-432-0 |
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20190618121803.0 |
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cr nn 008mamaa |
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100301s2004 xxu| s |||| 0|eng d |
| 020 |
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|a 9781592594320
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| 024 |
7 |
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|a 10.1385/1592594328
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
1 |
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|a Molecular Diagnosis of Genetic Diseases
|c edited by Rob Elles.
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| 250 |
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|a 2nd ed. 2004.
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| 260 |
# |
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|a Totowa, NJ :
|b Humana Press :
|b Imprint: Humana,
|c 2004.
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| 300 |
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|a X, 387 p.
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
1 |
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|a Methods in Molecular Medicine,
|v 92
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|a Optimizing PCR for Clinical Diagnosis -- Current and Emerging Techniques for Diagnostic Mutation Detection -- Mutation Scanning for the Clinical Laboratory -- Mutation Scanning for the Clinical Laboratory-Protein Truncation Test -- Mutation Scanning for the Clinical Laboratory -- Comparative Sequence Analysis -- Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization -- Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR -- Fragile X Disease -- Huntington’s Disease -- Hematological Applications -- Cystic Fibrosis -- Familial Adenomatous Polyposis -- Multiple Endocrine Neoplasia Types 1 and 2 -- Neurofibromatosis Type 1 -- Duchenne and Becker Muscular Dystrophy -- Spinal Muscular Atrophy -- Quality Management in Molecular Genetics -- Regulation of Genetic Testing in Clinical Practice.
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| 650 |
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|a Human genetics.
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| 650 |
1 |
4 |
|a Human Genetics.
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| 700 |
1 |
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|a Elles, Rob.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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| 856 |
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|u https://doi.org/10.1385/1592594328
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