Signs And Symptoms Of Genetic Conditions: A Handbook
Language: English
Published by Oxford University Press Inc, 2026
- Softcover
- New

Seller: Revaluation Books, Exeter, United KingdomRevaluation Books
AbeBooks seller since January 6, 2003
Condition: New
£ 170.20
Quantity: 2 available
Add to basketItem description from seller
2nd revised edition edition. 624 pages. 6.18x1.27x9.22 inches. In Stock.
Seller Inventory # x-0197657168
- Title
- Signs And Symptoms Of Genetic Conditions: A Handbook
- Author
- Toriello, Helga V. (Editor)/ Abdul-Rahman, Omar A. (Editor)/ Adam, Margaret P. (Editor)/ Hoyme, H. Eugene (Editor)
- Publisher
- Oxford University Press Inc
- Publication year
- 2026
- Condition
- Brand New
- Binding
- Paperback
- Language
- English
- ISBN 10
- 0197657168
- ISBN 13
- 9780197657164
- Edition
- 2nd Edition
- Item weight
- 0.9 kilograms
To maximize clinical utility, this handbook features: diagrams outlining the diagnostic approach; concise recommendations for laboratory and imaging studies; health supervision and management strategies for the most common conditions; and a curated list of references to facilitate deeper explorations of the subject matter.
This revised second edition includes additional clinical presentations indicative of potential genetic conditions. It also provides a comprehensive overview of genetic counseling principles and examines the application of next-generation sequencing technologies--particularly whole exome and whole genome sequencing--in the diagnostic evaluation of individuals with suspected genetic conditions.
Written for residents, students, and experienced clinicians alike, this guide is an indispensable resource for the diagnosis and management of both common and rare human genetic disorders.
"Synopsis" may belong to another edition of this title.
About the Author
Omar A. Abdul-Rahman, MD, is Chief of Medical Genetics for the Department of Pediatrics at Weill Cornell Medicine and New York-Presbyterian Komansky Children's Hospital. After completing his medical and pediatrics residency at the University of Mississippi School of
Medicine, he trained in clinical genetics at Stanford University. He has also served in various roles including Division Chief of Medical Genetics and interim Chair of the Department of Pediatrics, Mississippi and Director of the Department of Genetic Medicine at the Munroe-Meyer Institute in the University of Nebraska Medical Center.
Margaret P. Adam, MD, is an Attending Physician at Seattle Children's Hospital and a Professor in the Department of Pediatrics, Division of Genetic Medicine at the University of Washington School of Medicine. She is also the primary Clinical Geneticist in the Multidisciplinary Differences of Sex Development (DSD) Clinic at Seattle Children's Hospital and provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Dr Adam is Editor in Chief for GeneReviews, an NIH-supported, free, online, peer-reviewed reference for genetic conditions.
Helga V. Toriello, PhD, is the Professor of Pediatrics
and Human Development at the College of Human Medicine, Michigan State University and Director of Clinical Genetics at Spectrum Health Hospitals in Grand Rapids. She received her PhD in genetics from Michigan State University.
"About the title" may belong to another edition of this title.
Revaluation Books
Exeter, United Kingdom
AbeBooks seller since January 6, 2003
Shipping rates from United Kingdom to U.S.A.
| Item | 7 to 14 business days | 2 to 3 business days |
|---|---|---|
| First item | £ 12.50 | £ 30.00 |
Payment methods
Seller's business information
Edward Bowditch Ltd
Exstowe, Exton
Exeter, United Kingdom EX3 0PP
Terms of sale
Legal entity name: Edward Bowditch Ltd
Legal entity form: Limited company
Business correspondence address: Exstowe, Exton, Exeter, EX3 0PP
Company registration number: 04916632
VAT registration: GB834241546
Authorised representative: Mr. E. Bowditch
Right of withdrawal
If you are a consumer you can withdraw from the contract in accordance with the following. Consumer means any natural person who is acting for purposes which are outside his trade, business, craft or profession.
Information regarding the right of withdrawal
Statutory right to withdraw
You have the right to withdraw from this contract within 14 days without giving any reason.
The withdrawal period will expire after 14 days from the day on which you acquire, or a third party other than the carrier and indicated by you acquires, physical possession of the last good or the last lot or piece.
To exercise the right of withdrawal, electronically fill in and submit a clear statement on our website, under "My Purchases" in "My Account". We will communicate to you an acknowledgement of receipt of such a withdrawal on a durable medium (e.g. by e-mail) without delay.
To meet the withdrawal deadline, it is sufficient for you to send your communication concerning your exercise of the right of withdrawal before the withdrawal period has expired.
Effects of withdrawal
If you withdraw from this contract, we will reimburse to you all payments received from you, including the costs of delivery (except for the supplementary costs arising if you chose a type of delivery other than the least expensive type of standard delivery offered by us).
We may make a deduction from the reimbursement for loss in value of any goods supplied, if the loss is the result of unnecessary handling by you.
We will make the reimbursement without undue delay, and not later than 14 days after the day on which we are informed about your decision to withdraw from this contract.
We will make the reimbursement using the same means of payment as you used for the initial transaction, unless you have expressly agreed otherwise; in any event, you will not incur any fees as a result of such reimbursement.
We may withhold reimbursement until we have received the goods back, or you have supplied evidence of having sent back the goods, whichever is the earliest.
You shall send back the goods or hand them over to Revaluation Books, Hounslow, United Kingdom, without undue delay and in any event not later than 14 days from the day on which you communicate your withdrawal from this contract to us. The deadline is met if you send back the goods before the period of 14 days has expired. You will have to bear the direct cost of returning the goods. You are only liable for any diminished value of the goods resulting from the handling other than what is necessary to establish the nature, characteristics and functioning of the goods.
Exceptions to the right of withdrawal
The right of withdrawal does not apply to:
- The delivery of newspapers, journals or magazines with the exception of subscription contracts; and
- The supply of digital content which is not supplied on a tangible medium (e.g. on a CD or DVD) if you accepted when you placed your order that we could start to deliver it, and that you could not withdraw once delivery had started.
Shipping terms
Orders usually dispatched within two working days.