Освещены современные представления о генетических нарушениях, ведущих к сенсоневральной тугоухости (СНТ) и глухоте. Кратко рассмотрена история формирования знаний о роли наследственного материала в нарушении слуха у человека, затронуты некоторые экономические проблемы, возникающие при организации скрининга, и этические вопросы – при проведении генотипирования, особенно пренатального. В основном работа посвящена СНТ, связанной с нарушением структуры генов, прежде всего, гена GJB2 – основного фактора тугоухости. Изложены собственные данные: мажорной мутацией гена GJB2 является делеция 35delG, выявленная более чем у половины исследованных пациентов с СНТ – жителей Беларуси. Обсуждены новейшие сведения о роли генов различных функциональных групп, отвечающих за звукопроведение; показано, что СНТ может развиться в итоге аномалий структуры чрезвычайно большой группы генов. Особое внимание уделено мутациям митохондриальной ДНК и связанному с ними явлению ототоксичности аминогликозидных антибиотиков. Приведены результаты собственных исследований белорусских пациентов и популяционной группы по встречаемости митохондриальных мутаций. Описаны современные подходы к поиску дефектных генов, прежде всего, использование секвенирования нового поколения для выяснения причин наследственной тугоухости. Рассмотрены перспективы применения генотерапии при СНТ.
Предназначено для специалистов в области молекулярной и медицинской генетики, а также аспирантов, магистрантов и студентов, обучающихся по данным специальностям.



генетика

книги для студентов и аспирантов

магистратура

нарушения слуха

Беларусь

генетические заболевания

Код тишины

современная русская литература

современные любовные романы

современная зарубежная литература

книги о приключениях

учебники и пособия для вузов

стихи и поэзия

русская классика

мистика

любовное фэнтези

биографии и мемуары

современные детективы

короткие любовные романы

сказки

попаданцы

литература 19 века

научная фантастика

саморазвитие / личностный рост

триллеры

публицистика

зарубежная классика

Рассказ для детей про жизнь и приключения мальчика Саши и его друзей. Саше 5 лет, он живет в деревне и у него очень увлекательная жизнь. 

детская проза

детские приключения

Как же хорошо в деревне

Ранним дождливым весенним утром в окно Валентины Ивановны постучали. Оказалось, случайный водитель подобрал на дороге молодую женщину, у которой начались предродовые схватки. Две неравнодушные соседки экстренно приняли у женщины роды, а когда выяснилось, что идти молодой мамочке с ребёнком некуда, то Валентина Ивановна предложила ей временно остаться у нее. Дальше произошло много всяких событий, связанных как с прошлым героев, так и с их настоящим. Вы встретитесь как со сценами клеветы и предательства, так и с проявлением доброты, сострадания и любви. История жизненная, а поэтому будет близка современному читателю.

классическая проза

Надо просто жить и всё получится

Two generations of an American family come of age – one before 9/11, one after – in this moving and original novel from the “intellectually restless, uniquely funny” (New York Times Book Review) mind of Nell ZinkPam, Daniel, and Joe might be the worst punk band on the Lower East Side. Struggling to scrape together enough cash and musical talent to make it, they are waylaid by surprising arrivals – a daughter for Pam and Daniel, a solo hit single for Joe. As the ‘90s wane, the three friends share in one another’s successes, working together to elevate Joe’s superstardom and raise baby Flora.On September 11, 2001, the city’s unfathomable devastation coincides with a shattering personal loss for the trio. In the aftermath, Flora comes of age, navigating a charged political landscape and discovering a love of the natural world. Joining the ranks of those fighting for ecological conservation, Flora works to bridge the wide gap between powerful strategists and ordinary Americans, becoming entangled ever more intimately with her fellow activists along the way. And when the country faces an astonishing new threat, Flora’s family will have no choice but to look to the past – both to examine wounds that have never healed, and to rediscover strengths they have long forgotten.At once an elegiac takedown of today’s political climate and a touching invocation of humanity’s goodness, Doxology offers daring revelations about America’s past and possible future that could only come from Nell Zink, one of the sharpest novelists of our time. 

зарубежные любовные романы

музыка

Doxology

‘A formidable newcomer to British crime writing’ Daily Mail‘Outstanding’ Stephen BoothA gripping thriller set in the atmospheric Peak District, perfect for fans of Val McDermid, Broadchurch and Happy Valley***‘She was running towards the gorge. The place the locals call Dead Girl's Drop…’DI Meg Dalton isn’t prepared for her latest case. A ten year old girl is found running through the woods, barefoot and wearing only a blood-soaked nightdress. She has no memory of what happened to her, but her father is found stabbed to death in their nearby house.At first, Meg blames an intruder – but why had the girl's murdered father been so obsessed with the creepy statues in the woods, and with the girl's recent heart transplant?Meg's investigation leads her down a chilling path. The girl has been having nightmares, and seems to remember things that happened to her heart donor. Who was the donor and what happened to them? Could this have anything to do with the murder of the girl's father?Meg is forced to question her deepest beliefs to discover the shocking truth before the killer strikes again… 

полицейские детективы

Dead Man’s Daughter

Discover the bloody end of Mia Corvere’s story as internationally bestselling author Jay Kristoff brings The Nevernight Chronicle to its epic conclusion.The greatest games in Godsgrave’s history have ended with the most audacious murders in the history of the Itreyan Republic.Mia Corvere, gladiatii, escaped slave, and infamous assassin, is on the run. Pursued by Blades of the Red Church and soldiers of the Luminatii legion, she may never escape the City of Bridges and Bones alive. Her mentor Mercurio is now in the clutches of her enemies. Her own family wishes her dead. And her nemesis, Consul Julius Scaeva, stands but a breath from total dominance over the Republic.But beneath the city, a dark secret awaits. Together with her lover Ashlinn, brother Jonnen, and a mysterious benefactor returned from beyond the veil of death, she must undertake a perilous journey across the Republic, seeking the final answer to the riddle of her life. Truedark approaches. Night is falling on the Republic for perhaps the final time.Can Mia survive in a world where even daylight must die?New York Times and internationally bestselling author Jay Kristoff’s writing has been praised by critics and readers alike and has won many awards, including four Aurealis Awards, an ABIA, and David Gemmell Morningstar and Legend awards. 

зарубежное фэнтези

фэнтези про драконов

героическое фэнтези

Darkdawn

In this delightfully illustrated book Susie Wynne shows how to draw and paint a range of popular pets in watercolour – dogs, cats, rabbits, guinea pigs, horses – in step-by-step detail.Learning how to paint your pet has great popular appeal. The Daily Mail weekend colour supplement has already featured Susie Wynne’s work twice and this brought in a huge postbag.Susie specializes in painting people’s pets and over the years she has perfected her drawing and watercolour techniques to capture the unique personality of her animal subjects. Most doting owners want some permanent record of their pet, and in this book Susie shares the secrets of her success.She starts by taking photographs of the animals, then does a loose pencil sketch and gradually builds up the right body proportions and the texture of the fur in watercolour. Susie believes the important thing is to capture the animal’s character and personality and that to do this you have to get to know the animal first.Draw and Paint Your Pet includes plenty of practical instruction and thirteen full step-by-step demonstration paintings of dogs, cats, rabbits, guinea-pigs and horses. 

изобразительное искусство

Draw and Paint your Pet

Eager to wear gardening gloves but feel lost in the garden? Full of practical tips and detailed step-by step instructions, The First-Time Gardener is the beginner's guide to gardening. Kim Wilde turned from show biz to gardening and learned from scratch to become a recognised expert in the field.Beautifully illustrated throughout this one-stop guide will teach you the very basics of what gardening is about.Introduction:• Why gardening can be so rewarding• Why it’s important not to expect too much too soon• Why planning is the keyDetails of each essential garden technique:• Main soil types and the benefits/drawbacks of each• Fundamental tools• Guide to plant terms – demystifying words such as perennial, biennial, bulbs, rhizomes and many moreThe book assumes no prior knowledge and takes you through the basics of planning a garden, choosing plants and turning your ideas into reality – including how to make the most of climbers, containers, and hanging baskets. But it will also help you assess what you've already got in your garden. Not all gardens should be created from scratch, as per the TV makeovers. In fact, if you can wait a while to see what happens in your new garden, then you may find you've inherited some weird and wonderful plants.Contents include:• Planning a garden• Tips on planting, pruning and propagation• Hard landscaping• Choosing plants• Taking care of your garden – digging, weeding, watering and feeding• Gardening techniques• Green gardening• Growing fruit, vegetables and herbs• Trouble shooting and pest control• The possible pitfalls and helping you to identifywhat’s gone wrong and how to resolve it 

сад и огород

First-time Gardener

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Код тишины