Medical genetics

This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases.

Most biological pathways, physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila.

The book describes molecular principles and mechanisms by which mitochondrial DNA (mtDNA) can drive the occurrence of diseases and the latest understanding of mtDNA biology.

This book focuses on an "e;outside the box"e; notion by utilizing the powerful applications of next-generation sequencing (NGS) technologies in the interface of chemistry and biology.

This volume focuses on the modulation of biological membranes by specific biophysical properties.

This contributed volume offers a comprehensive and detailed overview of the various aspects of long non-coding RNAs and discusses their emerging significance.

This volume provides the reader with an overview of the diverse functions of the RUNX family of genes.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a highly prevalent hereditary renal disorder in which fluid-filled cysts are appeared in both kidneys.

This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis.

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

Motor dysfunction and cognitive impairment are major symptoms in both Huntington's Disease (HD) and Parkinson's Disease (PD).

Dieser Buchtitel ist Teil des Digitalisierungsprojekts Springer Book Archives mit Publikationen, die seit den Anfängen des Verlags von 1842 erschienen sind.

Steroids regulate differentiation, growth and functioning of many tissues via a nuclear receptor gene activation mechanism.

Advances in genetics, molecular biology and gene delivery technologies in recent years have led to new gene therapy strategies for treatment of a variety of diseases.

Since the first successful transfer of an in vitro fertilised human egg in 1976, modern endocrinology, genetics, and assisted reproductive technologies have opened new frontiers of research with the aim to treat infertile women.

It is now widely accepted that cells have the ability to initiate a program of gene-directed death, a process called "e;apoptosis"e; which may also be used as an innovative strategy for therapeutic intervention in cancer therapy.

The past two decades have witnessed a truly phenomenal growth and expansion in our knowledge of the principles and mechanisms of in- heritance.

The central role of the ribonucleic acids (RNA) in mediating the expression of information encoded in DNA in living cells is now well established.

By consistently dedicating efforts to multi-omic and other high-throughput technologies, it is expected that RNA therapies will have a vital role in future personalized medicine approaches for cancer therapy.

In preparing the new completely revised edition of this glossary, which in the meantime has been translated into Russian and Polish, we have attempt- ed to include the most important new terms and to revise the text in those cases where new data demanded it*.

Der kritische Überblick zur pränatalen Diagnostik und Therapie!

Dieser Buchtitel ist Teil des Digitalisierungsprojekts Springer Book Archives mit Publikationen, die seit den Anfängen des Verlags von 1842 erschienen sind.

Dieser Buchtitel ist Teil des Digitalisierungsprojekts Springer Book Archives mit Publikationen, die seit den Anfängen des Verlags von 1842 erschienen sind.

A small informal symposium on "e;Molecular Genetics"e; was organized by us on behalf of the "e;Gesellschaft Deutscher Naturforscher und Arzte"e; and took place in Berlin in October 1967.

Biotechnology is one of the most promising fields of technology, especially since molecular biology methods have enhanced our knowledge of genes, their structure, and their action.

Although Prader-Willi syndrome was first described 35 years ago, it was following detection of an interstitial chromosome 15q deletion in some affected patients ten years ago that it became a major focus of multidisciplinary scientific interest.

Never has so much progress been reported in immunology as at this congress.

In den letzten Jahren ist aus der molekularbiologischen Forschung heraus eine Analysetechnik für die breitere Anwendung entwickelt worden, die nach ihrer Ausführungsform "DNA-Hybridisierungstechnik" und nach ihrem Anwendungsbereich "Gen-Analyse" genannt wird.

The Second International Symposium on Narcolepsy was held at Fairchild Auditorium, Stanford University, on 6-7 July 1985 under the presidency of Drs.

Molecular biology has always been a discipline of rapid development.

Schuldet der Arzt Unterhalt für ein Kind, dessen Geburt er aufgrund einer Indikation nach § 218a StGB hätte verhindern sollen?

Nearly 10 years have elapsed since I finished writing the first edition of Intro- duction to Molecular Embryology.

Upon wresting the control of the earth from the Titans, Zeus assigned the task of creating living creatures to two Titan brothers who had sided with him in the epic battle just concluded.

The purpose of this monograph is to describe theoretical aspects of the interpretation of data obtained from experiments performed with labeled hormones.

Due to sensitive molecular biological techniques, our understanding of chromosomal aberrations is steadily increasing.

Ataxia-telangiectasia or A-T is a fatal progressiveneurological disease of children.

Applied genetic research, genetic toxicology and mutation research investigate the mutagenicity of chemicals and other agents.

The European School of Oncology came into existence to respond to a need for informa- tion, education and training in the field of the diagnosis and treatment of cancer.