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1

Dumitrescu, Alexandrina L., et Junya Kobayashi. Genetic Variants in Periodontal Health and Disease. Berlin, Heidelberg : Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-00680-7.

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Junya, Kobayashi, et SpringerLink (Online service), dir. Genetic Variants in Periodontal Health and Disease. Berlin, Heidelberg : Springer-Verlag Berlin Heidelberg, 2010.

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3

Periodontal diseases in children and adolescents. New York : Nova Science Publishers, 2011.

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4

Heinrichs, E. A. Genetic evaluation for insect resistance in rice. Manila, Philippines : International Rice Research Institute, 1985.

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5

Shaw, Michael Jeremy. Oral and dental disease in handicapped adults : An evaluation of methods of improving and maintaining the healthof the periodontal structures. Birmingham : University of Birmingham, 1994.

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6

Kahlenberg, Morton S. Hereditable cancer syndromes : Evaluation, treatment and the role of the surgical oncologist. Philadelphia, Pa : Saunders, 2009.

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7

B, Hall Richard, Hanna Roger D, Nyong'o Risper N et International Energy Agency, dir. Joint proceedings, International Energy Agency : 1991 joint meeting of the Task V activity groups on Exchange of Genetic Material, Pest/Disease Management and Joint Trials of Alnus, Populus, and Salix, Iowa State University, Ames, Iowa USA, August 22-27, 1991 : and a workshop of the Task II activity group on Evaluation of Alnus Species and Hybrids, University of British Columbia, Vancouver, British Columbia, Canada, August 8-10, 1988. Ames, Iowa : Dept. of Forestry, Iowa State University, 1993.

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8

Genetic Evaluation for Insect Resistance in Rice. Agribookstore, 1985.

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9

Medrano, E. G., H. Rapusas et E. A. Heinrichs. Genetic Evaluation for Insect Resistance in Rice. Wiley & Sons, Incorporated, John, 1985.

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10

Genetic improvement of trees and shrubs, pest/disease control, exchange, evaluation and joint testing for energy purposes. Ås, Norway : Agricultural University of Norway, Advisory Service, 1994.

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11

Mammen, Andrew L., et Jessica R. Nance. Evaluation of hyperCKaemia. Sous la direction de Hector Chinoy et Robert Cooper. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198754121.003.0007.

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Serum creatine kinase (CK) levels may be elevated in patients with muscle weakness or pain. In asymptomatic patients with CK elevations, the focus should be on identifying reversible causes, followed by investigation for inherited muscle diseases. In asymptomatic patients with an incidental finding of elevated CK, clinicians should look for reversible causes, then re-test the CK after 10 days of rest in the absence of potential triggers. If the CK remains markedly elevated and/or electromyography proves myopathic, a muscle biopsy should be considered. Women of childbearing age with elevation of serum CK should be evaluated for dystrophin mutation. Genetic causes of hyperCKaemia can be pursued with targeted gene sequencing, or whole exome or next generation sequencing. Patients with inherited skeletal muscle diseases may also have associated cardiac disease, so a cardiology evaluation should be considered in all patients with unexplained CK elevations.
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12

Gálvez-Jiménez, Néstor, Amos D. Korczyn et Ramón Lugo-Sanchez, dir. Non-Motor Parkinson's Disease. Cambridge University Press, 2022. http://dx.doi.org/10.1017/9781009039291.

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Non-motor Parkinson's Disease is a burgeoning area of the movement disorders field, as patients increasingly live longer and encounter more late-stage symptoms. The spectrum of non-motor manifestations spans much of the body, with non-motor features occurring in all stages of the disease. Identification of symptoms is key for preserving quality of life and successful treatment. This is a practical manual on all aspects of pre-motor and non-motor manifestations of Parkinson's. The genetic causes of non-motor symptoms are detailed and methods of patient evaluation summarized. Topics such as autonomic and sexual dysfunction, mood disorders, and drug-induced symptoms of non-motor Parkinson's are covered in depth. This is an essential resource for movement disorder specialists, neurologists and other clinicians involved in caring for those with Parkinson's disease.
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13

Dukhovny, Stephanie. Prenatal Genetics for Women with Neurology Disease. Sous la direction de Emma Ciafaloni, Cheryl Bushnell et Loralei L. Thornburg. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190667351.003.0006.

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The genetic evaluation of heritability of genetic disease, as well as screening of the fetus for neurologic diseases, have evolved a great deal since the 1970s. Screening and diagnostic evaluation now includes the ability to detect fetuses with anatomic abnormalities of the central nervous system and rare autosomal recessive disorders with neurologic features. Preimplantation genetic diagnosis now allows families with confirmed genetic abnormalities to utilize in vitro fertilization technologies to avoid affected pregnancies. For families that have not received a prenatal diagnosis, newborn screening allows for detection of diseases with potential neurologic implications in the child’s early newborn period.
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Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson et Nathaniel M. Robbins. A 20-year-Old Male with Acute Lower-Extremity Weakness. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0025.

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A metabolic myopathy may be an overlooked etiology of recurrent exercised-induced weakness. This chapter discusses the clinical features and diagnostic considerations for adult patients with suspected metabolic myopathy. Adult patients with carbohydrate or fatty acid disorders typically have a history since childhood of exercise-induced myalgias, cramps, and fatigue. Episodes of myoglobinuria tend to present later, usually in the second decade. For any unexplained myopathy, especially if there is concern for a metabolic myopathy, there should also be consideration of a mitochondrial disease. Many mitochondrial disorders present with multiple neurological problems, such as deafness, seizures, encephalopathy, ptosis, or ophthalmoplegia. This chapter will discuss the complexities of genetic testing and muscle biopsy for the evaluation of a possible metabolic myopathy.
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15

Barakat, Amin Y., et Russell W. Chesney, dir. Pediatric Nephrology for Primary Care. American Academy of Pediatrics, 2008. http://dx.doi.org/10.1542/9781581104356.

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This clinical resource is purpose-built to help primary caregivers take a lead role in diagnosis, evaluation, and treatment of diverse pediatric kidney diseases. Diagnose and manage renal diseases with confidence. The resource book has clear, concise overviews of the full range of renal conditions you're likely to encounter; evidence-based discussion of each condition's clinical course, pathogenesis, and etiology; expert management recommendations and valuable clinical pearls, tables, algorithms, and clinical calculators to help with differential diagnosis and patient workups; advice on when to treat vs when to refer; practical implications of recent research findings; and how-to diagnostic solutions. Contents include evaluating patient presentation; history and physical examination; examination of the urine; use of the clinical laboratory; imaging of the kidney and urinary tract; prenatal and perinatal diagnosis; guidelines for patient referral; proven approaches to common conditions; congenital abnormalities; urinary tract infection; hematuria and proteinuria; glomerular disease; renal tubular disease; water and electrolyte disorders; acute kidney injury; chronic renal failure; hypertension; genetic diseases; and kidney in systemic disease.
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