The Example of an Autosomal Recessive Disease: Cystic Fibrosis

writer : Marcello Ciaccio

source : Clinical and Laboratory Medicine Textbook 2021

page : p568-569

2025-12-30 488

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Uniparental Disomy

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P83

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Edward Syndrome

المؤلف : زهرة محمود الخفاجي

المصدر : موسوعة الحياة

الجزء والصفحة :

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Special Considerations in Treating Genetic Disease

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P295-296

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A Loss of Glycosylation: Mucolipidosis II or I-Cell Disease

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P258

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Transient neonatal diabetes

writer : Holt, Richard IG, and Allan Flyvbjerg

source : Textbook of diabetes (2024)

page : 6th ed , page 285

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Complications of Thalassemia and Their Management: Skeletal Changes

writer : Hoffman, R., Benz, E. J., Silberstein, L. E., Heslop, H., Weitz, J., & Salama, M. E.

source : Hematology : Basic Principles and Practice

page : 8th E , P571-572

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Deletion and Duplication Syndromes

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P86-88

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Selenoprotein Deficiency— A Disorder of Thyroid Hormone Metabolism

writer : Wass, J. A. H., Arlt, W., & Semple, R. K. (Eds.).

source : Oxford Textbook of Endocrinology and Diabetes

page : 3rd edition , p566

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التليف الكيسي Cystic fibrosis

المؤلف : أ.د. مها علي فهمي صدقي

المصدر : اساسيات علم الوراثة ( الصفات والامراض الوراثية )

الجزء والصفحة : ص168-170

2025-01-22 1223

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Familial Occurrence of Cancer

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P362

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أهم الفحوصات التي تجرى لتشخيص الأمراض الوراثية

المؤلف : ا.د. شيماء جمال احمد , أ.م.د. محمد فاضل إبراهيم

المصدر : كيفية الوقاية من الامراض الوراثية

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Pathobiology of Sickle Cell Disease : Disease pathogenesis

writer : Hoffman, R., Benz, E. J., Silberstein, L. E., Heslop, H., Weitz, J., & Salama, M. E.

source : Hematology : Basic Principles and Practice

page : 8th E , P591-593

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Hemoglobin E: A Structurally Altered Hemoglobin With Thalassemia Phenotypes

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P245

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Disorders with multifactorial inheritance

writer : Bezabeh ,M. ; Tesfaye,A.; Ergicho, B.; Erke, M.; Mengistu, S. ; Bedane,A. and Desta, A

source : General Pathology

page :

19-2-2016 2190

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Monogenic Causes of Diabetes : Glucokinase MODY and pregnancy

writer : Holt, Richard IG, and Allan Flyvbjerg

source : Textbook of diabetes (2024)

page : 6th ed , page 280-281

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Polyglutamine Disorders

writer : Cohn, R. D., Scherer, S. W., & Hamosh, A.

source : Thompson & Thompson Genetics and Genomics in Medicine

page : 9th E, P127-128

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Acute Intermittent Porphyria

writer : Hoffman, R., Benz, E. J., Silberstein, L. E., Heslop, H., Weitz, J., & Salama, M. E.

source : Hematology : Basic Principles and Practice

page : 8th E , P512-513

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