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140122 ||| eng |
| 020 |
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|a 9781461307853
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| 100 |
1 |
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|a Harris, Harry
|e [editor]
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| 245 |
0 |
0 |
|a Advances in Human Genetics
|h Elektronische Ressource
|b Volume 18
|c edited by Harry Harris, Kurt Hirschhorn
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| 250 |
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|a 1st ed. 1989
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| 260 |
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|a New York, NY
|b Springer US
|c 1989, 1989
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| 300 |
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|a 406 p
|b online resource
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| 505 |
0 |
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|a 1 The Molecular Basis of HLA—Disease Association -- Function and Nomenclature -- Genomic Organization -- Class II Sequence Polymorphism -- Structural Consideration -- HLA and Disease -- Hybrid Molecules and Transassociation -- Disease-Associated Class II Sequences -- Mechanisms of Class II-Mediated Disease Susceptibility -- References -- 2 Chromosome Instability Syndromes -- Clinical Descriptions -- Cytogenetic Findings -- Heterogeneity and Complementation -- Heterozygote Detection -- Prenatal Diagnosis -- Molecular Considerations -- Conclusion -- References -- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations -- The Biochemical Basis of Lacticacidemia -- Pyruvate Carboxylase Deficiency -- Respiratory Chain Defects -- The Genetics of Lacticacidemia -- References -- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes -- Infants of Diabetic Mothers -- Infant Giants -- Beckwith—Wiedemann Syndrome -- Hemihyperplasia (Hemihypertrophy) -- Sotos Syndrome -- Nevo Syndrome -- Bannayan—Riley—Ruvalcaba Syndrome -- Weaver Syndrome -- Marshall—Smith Syndrome -- Elejalde Syndrome -- Simpson—Golabi—Behmel Syndrome -- Proteus Syndrome -- Miscellaneous Conditions with Overgrowth -- References -- 5 Genetics of Growth Hormone and Its Disorders -- Human Growth Hormone and Related Hormones -- Human Growth Hormone Gene Cluster -- Genetic Disorders of hGH and hCSH Synthesis or Action -- Recombinant hGH -- Future Studies on hGH and Related Genes -- References -- Addenda
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| 653 |
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|a Medical Genetics
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| 653 |
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|a Medical genetics
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| 700 |
1 |
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|a Hirschhorn, Kurt
|e [editor]
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| 041 |
0 |
7 |
|a eng
|2 ISO 639-2
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| 989 |
|
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|b SBA
|a Springer Book Archives -2004
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| 490 |
0 |
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|a Advances in Human Genetics
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| 028 |
5 |
0 |
|a 10.1007/978-1-4613-0785-3
|
| 856 |
4 |
0 |
|u https://doi.org/10.1007/978-1-4613-0785-3?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
0 |
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|a 616,042
|