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New Clinical Genetics continues to offer the most innovative
case-based approach to investigation, diagnosis, and management in
genomic medicine. New Clinical Genetics is used worldwide as a
textbook for medical students, but also as an essential guide to
the field for genetic counselors, physician assistants, clinical
and nurse geneticists, and students studying healthcare courses
allied to medicine. Readers love the integrated case-based approach
which ties the science to real-life clinical scenarios to really
aid understanding. Clinical genetics is a fast-moving field and
there have been many advances in the few years since the previous
edition was published. This 4th edition has been completely updated
and revised to reflect new science, new techniques and new ways of
thinking. Nowhere is this more clear than in the chapter discussing
genetics services which is now significantly expanded to reflect
the increasing role of genomic medicine and the use of
multidisciplinary teams in the management of patients with genetic
disorders. The unique case-based structure and format remains the
same, but substantial new material has been added to cover:
polygenic risk scores - now starting to become useful clinical
service tools preimplantation diagnosis noninvasive prenatal
diagnosis companion diagnostics for prescribed drugs liquid
biopsies in cancer epigenetics and gene regulation the widespread
use of next-generation sequencing as a routine diagnostic tool the
checking of a patient's whole exome for the cause of their problem
In few areas of medicine is progress more spectacular than in the
field of prenatal diagnosis. New clinical techniques such as
chorion villus sampling, detailed ultrasound scanning and
cordocentesis are being evaluated by obstetricians, and refinement
of biochemical testing is widening the scope of maternal serum
screening. In the laboratory, dramatic advances in molecular
biology are occurring: families at risk of genetic disease can be
investigated with gene probes, and preimplantation diagnosis of the
embryo is now becom ing a reality. These technical advances have
important ethical and practical implications, among which will be a
further increase in public expectations of the standards required
of antenatal services. Clini cians will need a high degree of skill
to inform healthy women about the options for screening normal
pregnancies, and to counsel high-risk women about the benefits and
limitations of prenatal diagnosis. Obstetricians, scientists and
health service managers will face the difficult task of deciding
how prenatal diagnosis can be made available to women in a caring
and cost-effective way. Recognising the rapid progress in this
field, the Royal College of Obstetricians and Gynaecologists made
prenatal diagnosis the subject of its 23rd Study Group. An
international panel of leading researchers, whose expertise ranged
from molecular biology to philosophy, was invited to participate in
a three day workshop, with time for in-depth discussion as well as
the presentation of papers.
HIGHLY COMMENDED IN THE 2016 BMA MEDICAL BOOK AWARDS! Instructors'
comments on new, 3rd edition: "I LOVED the book. I've never seen
anything like it, and I've reviewed a lot of genetics texts. The
way that cases are presented throughout is extremely novel." "I am
greatly pleased with the revisions. In my opinion, there is an
increased clarity in the text (which will serve students well), and
many welcomed updates based on current literature. Good job!" "I
LIKE IT A LOT!!" "The book looks good and we will certainly be
recommending it for our medical genetics course this autumn." "This
is a fantastic book that I enjoy so much teaching from." "I have
been reviewing the book. I think it is a great teaching tool since
you can follow a case from beginning to end." "I have used this
book every year since the first edition was published and it is a
perfect fit for my human genetics course. I will definitely
continue to use it." "It's great. I will recommend the book as a
main text for the medical student class." In the few years since
the previous edition technical progress, especially the widespread
use of whole-genome technologies, has brought many advances in the
understanding, diagnosis and treatment of genetic disease. As a
result, most chapters have been substantially rewritten and updated
to reflect this. The unique structure and format remains the same,
but significant new material has been added to cover: the
widespread use of next-generation sequencing as a routine
diagnostic tool the checking of a patient's whole exome for the
cause of their problem noninvasive prenatal diagnosis by
next-generation sequencing of free fetal DNA in the maternal
circulation a new integrated treatment of epigenetics mosaicism,
'RASopathies' and disorders of the spliceosome are described in new
Disease boxes dysmorphology in more detail New Clinical Genetics
continues to offer the most innovative case-based approach to
modern genetics. It is used worldwide as a textbook for medical
students, but also as an essential guide to the field for genetic
counselors, physician assistants, and clinical and nurse
geneticists. Reviews of earlier editions: "This book provides a
wonderful case-based learning environment. There are also
self-assessment questions. Students are not given model answers but
are provided with guidance on how to work out the correct answers
for themselves. Excellent!" Human Genetics "This book is a very
valuable tool that will be used by future geneticists all over
Europe and beyond, both as a teaching material and as a source of
excellent knowledge." European Journal of Human Genetics
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Angewandte Humangenetik (German, Hardcover)
Andrew Read, Dian Donnai; Edited by Olaf Riess, Johannes Zschocke; Contributions by Ulrike A Mau-Holzmann; Translated by …
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This book elucidates comprehensive, application-based knowledge in
the field of human genetics from a scientific (Read) and clinical
(Donnai) perspective. The respected authors, marvelous
illustrations, the unique didactic structure and comprehension
questions (with answers) have propelled this title on to the lists
of numerous leading universities - including Harvard Medical School
- in Britain and the USA. The editors of this licensed edition have
adapted the translation to German circumstances and have added an
additionalcase on sterility.
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