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" Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease, 8th ed. "
Thompson & Thompson, Genética en medicina, 5a ed. ©2004 Últ. Reimpr. 2005 - Página 184
por Margaret W. Thompson, Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard - 1996 - 584 páginas
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Algorithms and Data Structures: 5th International Workshop, WADS ..., Volumen5

Frank Dehne - 1997 - 492 páginas
...Complexity of Computer Computations, pages 85-103. Plenum Press, 1972. 15. DH Ledbetter and A. Ballabio. Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalances. In CR Scriver, AL Beaudet, WS Sly, and D. Valle, editors, The Metabolic and Molecular Bases...
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Principles of Medical Genetics

Thomas D. Gelehrter, Francis S. Collins, David Ginsburg - 1998 - 444 páginas
...of FISH and its applications in a variety of research and clinical areas. Ledbetter DH, Ballabio A. Molecular cytogenetics of contiguous gene syndromes:...Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGrawHill, 1995:811-839. .4...
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On Moral Medicine: Theological Perspectives in Medical Ethics

Stephen E. Lammers, Allen Verhey - 1998 - 1034 páginas
...prognosis is similarly problematicaL For further information: Ledbetter, David H., and Ballabio, Andrea, 'Molecular cytogenetics of contiguous gene syndromes:...Mechanisms and consequences of gene dosage imbalance', in The Metabolic and Molecular Bases of Inherited Disease (New York: McGraw-Hill, Inc., I 995 }, pp. 8...
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Encyclopaedia of Paediatric Neurology: Theory and Practice

Christos P. Panteliadis, Basil T. Darras - 1999 - 988 páginas
...5'10'MTHFR deficiency. Eur J Pediatr 142: 147-150 33. Wolf B (1995) Disorders of Biotin Metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Molecular and Metabolic Basis of Inherited Disease 7th ed. McGraw-Hill, New York, pp 315 1-3 172 (note: Figures used with permission...
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Diabetes and Cardiovascular Disease: Etiology, Treatment, and Outcomes

Aubie Angel, Naranjan S. Dhalla, Grant Pierce, Pawan K. Singal - 2001 - 432 páginas
...Suppl 2:S45-9:S45-S49. 1 8. Rosenblatt DS; Inherited disorders of folate transport and metabolism', in: Scriver CR, Beaudet AL, Sly WS, Valle D (eds):...molecular and metabolic bases of inherited disease. (5th ed.) New York, McGraw Hill, 1995, vol. II, pp 31 1 1-3128. 19. Rosenquist TH, Ratashak SA, Selhub...
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Human Chromosomes

Orlando J. Miller, Eeva Therman - 2001 - 530 páginas
...Contiguous gene syndromes produced by segmental aneusomy of the X chromosome (Ledbetter and Ballabio, Molecular cytogenetics of contiguous gene syndromes:...mechanisms and consequences of gene dosage imbalance, copyright 1995 McGraw-Hill, with permission of the McGraw-Hill Companies). (a) P22.33 q27.2 <— Q27.2...
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The Molecular and Genetic Basis of Neurologic and Psychiatric Disease

Roger N. Rosenberg - 2003 - 898 páginas
...pat = paternal, mat = maternal, inv = inversion. Adapted from Shaffer LG, Ledbetter DH, Lupski JR: Molecular cytogenetics of contiguous gene syndromes:...dosage imbalance. In Scriver CR, Beaudet AL, Sly WS, Vallel (eds): The Metabolic and Molecular Basis of Inherited Diseases. New York, McGraw-Hill, 2001,...
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Neurosciences at the Postgenomic Era: 8 Tables

Jacques Mallet, Yves Christen - 2003 - 204 páginas
...Factor-activated phosphorylation of histone H3. Science 285: 886-891 Shaffer LG, Ledbetter DH, Lupski JR (2001) Molecular cytogenetics of contiguous gene syndromes:...mechanisms and consequences of gene dosage imbalance. In: The metabolic and molecular bases of inherited disease. Vol. l.Scriver CR, Beaudet AL, Sly WS, Valle...
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The Practical Guide to the Genetic Family History

Robin L. Bennett - 2004 - 272 páginas
...Trinucleotide repeat expansion in neurological disease. Ann Neurol 36:814-822. Ledbetter DH, Ballabio A (1995). Molecular cytogenetics of contiguous gene syndromes:...Scriver CR, Beaudet AL, Sly WS, Valle D (eds), The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, pp. 811-839. Malzac P, Webber...
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Pediatric Retina

Mary Elizabeth Hartnett - 2005 - 582 páginas
...mitochondnal DNA l 8993C point mutation. Pediatr Res 1996:39:914-917. 6. Ledbettcr DH, Ballabio A. Molecular cytogenetics of contiguous gene syndromes:...mechanisms and consequences of gene dosage imbalance. In: The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:811—839....
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