Medical genetics

The process of genetic counseling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family.

The book discusses the basics of aptamers and the advent of aptamer-based technology in recent times.

Profound progress has been made in the fields of chronobiology and psychobiology within the past decade, in theory, experiment and clinical application.

This important book proposes revising the current informed consent protocol for predictive genetic testing to reflect the trend toward patient-centered medicine.

Biotechnology is a recognized research area that has increasingly advanced into new technologies and modern practices raising several legal, ethical and regulatory issues.

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG).

The International Union for the Scientific Study of Population's Panel on Historical Demography applies a historical perspective, such as the importance of kinship networks for demographic outcomes later in life, to promote work of contemporary relevance.

This book provides comprehensive insights into congenital heart disease from embryonic development through to clinical features, including human genetics and our current knowledge of the underlying molecular pathways.

Historically, the field of hematopoietic growth factor research began with the work of Carnot and Deflandre-in 1906 they suggested that the rate of erythropoiesis is regulated by a humoral factor found in the blood, namely, erythropoietin.

The Ninth Annual Pezcoller Symposium entitled "e;The Biology of Tumors"e; was held in Rovereto, Italy, June 4-7, 1997.

This volume includes comprehensive descriptions of miRNA biogenesis and their role in the development and progression of various human diseases.

Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide.

Autoimmune diseases are diverse and responsible for considerable morbidity.

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders.

viii From discussions with our colleagues, we know that they recognize the problems and worry about them, but simply do not have the time to thoroughly study the highly specialized genetic literature available.

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Deoxyribonucleic acid, or DNA, is the fundamental building block for an individual's entire genetic makeup.

CRISPR/Cas has emerged, as a powerful genetic engineering tool.

This comprehensive volume explores human genetic engineering its pre-clinical and clinical applications, current developments, and as treatment for hereditary diseases.

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia.

From its founding in 1927 until its dissolution in 1945, the Kaiser Wilhelm Institute for Anthropology, Human Genetics, and Eugenics (KWI-A) in Berlin-Dahlem transgressed many a boundary; indeed, the transgression of boundaries was in a sense its raison d'etre from the outset.

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not.

Clinical scientists, embryologists, and reproductive technologists, at all levels, as well as trainees and students interested in assisted reproductive technology and reproductive medicine, will find here a clear synopsis of the best laboratory practice, clinical biology, assisted reproduction techniques, and advanced practical skills they will need to know as clinical practitioners.

Protein homeostasis, or "e;Proteostasis"e;, lies at the heart of human health and disease.

This book discusses the possibilities for the use of ?

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down.

This stimulating series is unique in providing advice on management, leadership and development for those in the Allied Health Professions (AHP).

The mammalian genome is constantly challenged by exogenous and endogenous threats.

This book provides an essential overview of the rapidly advancing field of circular RNAs - newly discovered RNAs that are generated by back-splicing precursor mRNA and perform regulatory functions in many biological processes.

Genetic disorders are diseases caused by mutation in gene(s) or due to chromosomal disorder.

Review Questions of Clinical Molecular Genetics presents a comprehensive study guide for the board and certificate exams presented by the American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG).

This volume explores homologous recombination's (HR) essential role in meiotic and somatic cells.

Nowadays, genetics focuses on DNA.

RNA technologies are the driving forces of modern medicine and biotechnology.

Ovarian carcinoma continues to be responsible for more deaths than all other gynecologic malignancies combined, due to a continued inability to achieve detection of early (rather than advanced) stage disease and the lack of effective tumor-specific therapeutics.

This book contains the proceedings of the Serono Symposia USA interna- tional symposium on Genetic Models of Immune and Inflammatory Dis- eases held on October 20 to 23, 1994, in Savannah, Georgia.

In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders.

This book provides a cutting-edge review of polyglutamine disorders.

This book provides an overview on current trends and developments in precision nutrition and personalized health preservation, focussing on a field which is undergoing rapid change.

Molecular Genetics of Cancer, Second Edition provides an authoritative and up to date review of the key genes known to be critical in the development or progression of cancer.

Adequate blood supply to the eye is an important prerequisite for normal visual function.

The integrin family is composed of 24 members and approximately ten years ago (2003) we published a book devoted to the nine I domain integrin subunits.

Evolution is just a theory, isn't it?

This book provides a comprehensive overview of the genetic basis underlying endocrine diseases.

A complete guide to understanding and applying clinical research resultsIdeal for both researchers and healthcare providersUnderstanding Clinical Research addresses both the operational challenges of clinical trials and the needs of clinicians to comprehend the nuances of research methods to accurately analyze study results.

Genomic Biomarkers for Pharmaceutical Development: Advancing Personalized Health Care provides an in-depth review of the state of translational science across all stages of pharmaceutical development with a special focus on personalized health care.