000			03912cam a22004698i 4500
001			23019580
005			20240126151132.0
008			230314s2023 nju bf 001 0 eng
010			_a 2023012124
020			_a9781119240952 _q(paperback)
020			_z9781119241034 _q(adobe pdf)
020			_z9781119241027 _q(epub)
040			_aDNLM/DLC _beng _erda _cDLC _dDLC
042			_apcc
050	0	0	_aRB155
060	0	0	_aQZ 39
082	0	0	_a616/.042 _223/eng/20230505
245	1	0	_aClinical genetics and genomics at a glance
263			_a2306
264		1	_aHoboken, NJ; _aChichester: _bWiley-Blackwell, _c2023.
300			_apages cm
336			_atext _btxt _2rdacontent
337			_aunmediated _bn _2rdamedia
338			_avolume _bnc _2rdacarrier
490	1		_aAt a glance series
504			_aIncludes bibliographical references and index.
520			_a"Having trained in both the academic and clinical aspects of medicine in addition to the scientific aspects of genetics, the authors are aware of the significant gaps that exist in genetics teaching. This results in: a. Clinicians being devoid of a strong understanding of the fundamentals of genetics and its relevance and applicability to their day-to-day practice; b. Scientists lacking sound training in the clinical applicability of their work, resulting in a challenge in seeing use of genetics in the medical field. Current textbooks do not suitably fill this void, as they place too great an emphasis on either the medical or the scientific aspects of genetics; while a basic understanding of Southern blotting is of course of importance to both clinicians and academics, it has limited benefit when faced with a patient with Duchenne muscular dystrophy and the need to answer questions about the clinical management and implications for the patient and their family. Secondly, the truth is that most students and trainees find genetics a complex subject as it has historically been taught using uninspiring and dry texts. This does not need to be the case! Genetics is a fascinating and rapidly evolving field, with growing implications for clinicians in all specialities. With significant public and media interest in genetic screening ? for example through the recently highly publicised case of Angelia Jolie and BRCA screening, or through increasing numbers of firms offering ?genetic profiling? services directly to patients ? clinicians cannot afford to be ignorant to an often overlooked aspect of many of the conditions that they manage in their day-to-day practice. From the academic perspective, scientists need to be able to understand the clinical implications of their work, in order to have more effective conversations with those who translate their work into clinical practice. This requires a firm understanding of the presentation and management of the conditions that they investigate; yet there is no clear text that currently provides this knowledge. It is evident that there is a void, and to marry these two large aspects of genetics, we are proposing this book: a clear, systematic and clinically relevant text that seeks to make clinical genetics an approachable and applicable subject for both clinicians and scientists"-- _cProvided by publisher.
650	1	2	_aGenetics, Medical _xmethods
650	2	2	_aGenomic Medicine _xmethods
655		2	_aHandbook
700	1		_aLakhani, Neeta, _eed.
700	1		_aKulkarni, Kunal, _eed.
700	1		_aBarwell, Julian, _eed.
700	1		_aVasudevan, Pradeep, _eed.
700	1		_aDorkins, Huw, _eed.
776	0	8	_aLakhani, Neeta,
776	0	8	_iOnline version: _tClinical genetics and genomics at a glance _bFirst edition. _dHoboken, NJ : Wiley-Blackwell, 2023 _z9781119241034 _w(DLC) 2023012125
830		0	_aAt a glance series (Oxford, England)
906			_a7 _brip _corignew _d1 _eecip _f20 _gy-gencatlg
942			_2NLM _cBOOK _n0
999			_c70410 _d70410