- فهرست کتاب ها
- قلب و عروق، قفسه سینه
- نورولوژی، جراحی مغز و اعصاب و علوم اعصاب
- چشم پزشکی، بینایی سنجی
- دندان پزشکی، دهان و فک و صورت
- دستگاه گوارشی و کبد
- گوش، حلق و بینی
- ریه و مجاری تنفسی
- ارولوژی و نفرولوژی
- ارتوپدی و روماتولوژی
- پوست و مو و ناخن (درماتولوژی)
- جراحی (عمومی،زیبایی و ..)
- زنان و زایمان
- پزشکی بازسازی و احیا
- بیماریهای عفونی و قارچی
- غدد و متابولیسم
- سرطان و تومور شناسی
- معاینات و علائم تشخیصی
- بیهوشی (عمومی و موضعی)
- رادیولوژی، پرتو نگاری، سونوگرافی، اسکن، MRI، تصویربرداری، ماموگرافی
- تروما (ارتوپدی، فک و صورت، مغزی)
- آموزش و تحقیقات پزشکی، آمادگی آزمون و منابع پزشکی
- آناتومی و فیزیولوژی
- ایمونولوژی و آلرژی
- پاتولوژی، سیتوپاتولوژی و سیتولوژی
- پروتز و اندام مصنوعی
- پزشکی کودکان، نوزادان و جنین شناسی
- سلول های بنیادی
- هماتولوژی (خون شناسی) و پزشکی انتقال خون
- چاقی، تغذیه و رژیم غذایی
- اخلاق پزشکی
- پزشک قانونی
- پیرپزشکی و پزشکی سالمندان
- مراقبت های ویژه، حاد و بحرانی
- پیوند اعضا
- داروسازی، داروشناسی و دارودرمانی
- روانپزشکی
- دامپزشکی
- پرستاری و دستیاری پزشک
- علوم آزمایشگاهی
- سم شناسی
- انگل شناسی
- ژن شناسی و ژن درمانی (ژنتیک)
- بافت شناسی و مهندسی بافت
- تکنولوژی و بیوتکنولوژی پزشکی
- توان بخشی، کاردرمانی، ورزش درمانی
- پزشکی سنتی و گیاهی و پزشکی جایگزین
- بهداشت و درمان
- مهندسی شیمی
- مهندسی پزشکی
- مهندسی صنایع غذایی
- فیزیک و بیوفیزیک
- زیست شناسی (بیولوژی سلولی و مولکولی)
- شیمی
- بیوشیمی (پزشکی، دارویی و …) و شیمی بالینی
- بیو انفورماتیک، انفورماتیک پزشکی
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دانلود کتاب علائم و نشانه های اختلالات ژنتیکی
Signs and Symptoms of Genetic Conditions, 1ed
|
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist.
Comprising 31 clinical protocols from the world’s foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis.
To maximize clinical utility, this handbook features:
· Prominent flow chart diagrams that graphically depict the diagnostic approach
· Concise recommendations for laboratory and/or imaging studies
· Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom
Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.
About the Author
Louanne Hudgins, MD, is Chief of the Division of Medical Genetics and Professor of Pediatrics at Stanford University and Lucille Packard Children’s Hospital.
Helga V. Toriello, PhD, is Professor of Pediatrics and Human Development at Michigan State University and Director of Clinical Genetics at Spectrum Health.
Gregory M. Enns, MD, is Associate Professor of Pediatrics in the Division of Medical Genetics at Stanford University and Lucille Packard Children’s Hospital.
H. Eugene Hoyme, MD, is Professor of Pediatrics at the Sanford School of Medicine of the University of South Dakota and Chief Academic Officer and President of Research at Sanford Health.
Contents
۱ Genetic Testing
۲ Short Stature
۳ Obesity
۴ Overgrowth Syndromes
۵ Asymmetry
۶ Microcephaly
۷ Macrocephaly
۸ Alterations in Cranial Shape
۹ Brain Malformations
۱۰ Intellectual Disability
۱۱ Autism Spectrum Disorders
۱۲ Hypotonia
۱۳ Weakness
۱۴ Ataxia
۱۵ Seizures
۱۶ Metabolic Acidosis
۱۷ Hypoglycemia
۱۸ Hyperammonemia
۱۹ Hepatosplenomegaly
۲۰ Hearing Loss
۲۱ Malformations of the External Ear
۲۲ Anomalies of the Eye
۲۳ Facial Getting
۲۴ Congenital Heart Defects
۲۵ Genetics of Renal Malformations
۲۶ Limb Anomalies
۲۷ Congenital Contractures: Emphasizing Multiple Congenital Contractures— Arthrogryposis
۲۸ Disorders of Sexual Development
۲۹ Alterations in Skin Pigmentation
۳۰ Skin Malformations
۳۱ Spontaneous Abortion and Intrauterine Fetal Death
لینک کوتاه : https://bookbaz.ir/?p=49053
نویسنده : Louanne Hudgins , Helga V. Toriello
ناشر : Oxford University Press; 1 edition
سال انتشار : 2014
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 558
(ISBN) شابک : 019993097X
قیمت کتاب درآمازون : $79.85
حجم فایل : 5 MB
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