Medical genetics

This book sheds new light on the molecular diagnosis of deafness, emphasizing the impact of gene identification and its clinical application.

This book sheds new light on the molecular diagnosis of deafness, emphasizing the impact of gene identification and its clinical application.

Engineers have played an important and often underrecognized role in advances in the treatment and management of sickle cell disease and in recent curative breakthroughs.

Engineers have played an important and often underrecognized role in advances in the treatment and management of sickle cell disease and in recent curative breakthroughs.

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options.

The 6th Genomics, Neuroscience, Therapeutics, and Data Innovation Summit (GeNeDIS 2024) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging.

The 6th Genomics, Neuroscience, Therapeutics, and Data Innovation Summit (GeNeDIS 2024) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging.

The "e;Cancer Immunotherapy and Nanobiotechnology: An Interdisciplinary Approach"e; is the twenty fifth volume of the "e;Interdisciplinary Cancer Research"e; series, publishes comprehensive volume on cancer immunotherapy and nanobiotechnology.

This book is a unique source of information on the present state of the exciting field of molecular cytogenetics and how it can be applied in research and diagnostics.

The "e;Cancer Immunotherapy and Nanobiotechnology: An Interdisciplinary Approach"e; is the twenty fifth volume of the "e;Interdisciplinary Cancer Research"e; series, publishes comprehensive volume on cancer immunotherapy and nanobiotechnology.

Dieses deutschsprachige Standardwerk deckt das gesamte Spektrum der Genetik ab, von der klassischen Formalgenetik bis hin zur Genomforschung und Gentechnologie.

Dieses deutschsprachige Standardwerk deckt das gesamte Spektrum der Genetik ab, von der klassischen Formalgenetik bis hin zur Genomforschung und Gentechnologie.

The 6th Genomics, Neuroscience, Therapeutics, and Data Innovation Summit (GeNeDIS 2024) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging.

The 6th Genomics, Neuroscience, Therapeutics, and Data Innovation Summit (GeNeDIS 2024) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging.

This fully updated edition presents a collection of protocols reflecting the latest advancements in exon skipping and inclusion strategies.

This fully updated edition presents a collection of protocols reflecting the latest advancements in exon skipping and inclusion strategies.

The human brain is remarkably complex, permitting sophisticated behavioural rep- toires, such as languages, tool use, self-awareness, symbolic thought, cultural learning and consciousness.

This book provides a comprehensive overview of circular RNAs (circRNAs), a novel class of non-coding RNAs with diverse regulatory roles and clinical relevance.

This book provides a comprehensive overview of circular RNAs (circRNAs), a novel class of non-coding RNAs with diverse regulatory roles and clinical relevance.

An engaging account of a neurologist''s experience with an Alzheimer''s diagnosis, a disease he spent decades treating in others.

Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males.

After a little more than 20 years since the original discovery of neuropeptide Y (NPY) by Tatemoto and colleagues, the field of NPY research has made remarkable progress and is coming of age.

Keine ausfuhrliche Beschreibung fur "e;WITKOWSKI: GENETIK ERBLICHER SYNDR.

This unique book explores the validity of early neuroinflammation as the cause of autism.

This unique book explores the validity of early neuroinflammation as the cause of autism.

This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder.

This book represents an update on the clinical, biochemical and molecular genetic findings of a rare neurometabolic disorder.

In the shadow of global conflicts-from World War II through the tensions of the Cold War-an extraordinary scientific revolution was quietly unfolding.

In the shadow of global conflicts-from World War II through the tensions of the Cold War-an extraordinary scientific revolution was quietly unfolding.

This text provides a clear and concise guide to the evolving role of genetic testing in oncology.

This text provides a clear and concise guide to the evolving role of genetic testing in oncology.

This book is a lab manual which can be integrated with bioinformatics course.

This atlas provides a thorough overview of various inherited retinal dystrophies with an emphasis on phenotype characteristics and how they relate to the most frequently encountered genes.

This atlas provides a thorough overview of various inherited retinal dystrophies with an emphasis on phenotype characteristics and how they relate to the most frequently encountered genes.

This book is a lab manual which can be integrated with bioinformatics course.

This book intends to report the new progress of studies on urea transporters.

This book intends to report the new progress of studies on urea transporters.

This book covers all aspects of update diagnosis, treatment, and monitoring of Gaucher Disease.

This book covers all aspects of update diagnosis, treatment, and monitoring of Gaucher Disease.

This book offers a historical perspective on the scientific milestones that have brought IVF to its current prominence and explores future directions based on ongoing research.

Down syndrome is a textbook example of a chromosomal disorder and is common, occurring in 1 in 700 live births in the US.

Down syndrome is a textbook example of a chromosomal disorder and is common, occurring in 1 in 700 live births in the US.

The book provides a comprehensive overview of the use of non-invasive prenatal screening (NIPS) in clinical practice.

The book provides a comprehensive overview of the use of non-invasive prenatal screening (NIPS) in clinical practice.

Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.

This manual covers all possible aspects of managing a child with differences in sex development, an entity easily missed by the unsuspecting clinician.

This manual covers all possible aspects of managing a child with differences in sex development, an entity easily missed by the unsuspecting clinician.

Principles and Advances in Population Neuroscience is aimed at enhancing our understanding of forces that shape the human brain and, as such, contribute to inter-individual variations in cognitive abilities, behavior and mental health throughout the lifespan.