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The Year in Human and Medical Genetics
The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011. Volume I opens with a dialog betwee...
The Year in Human and Medical Genetics
The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. Volume III includes overviews of PIDs in India and the Middle East as well as additional papers on new developments in primary...
The Year in Human and Medical Genetics
The genetic dissection of human primary immunodeficiency is expanding at full speed, in at least two directions. Some investigators pursue the dissection of well-known clinical phenotypes, for which the count of genetic etiologies seems to be endless, whereas others begin the search for inborn errors underlying new phenotypes, infectious and otherwise. The field of primary immunodeficiency is also expanding in other ways, with new therapeutic approaches, and with the care of patients in regions of the world where these diseases were unheard of less than a decade ago. The volume provides an overview of the field of medical genetics and its progress in 2011. This volume focuses on new developm...
Pediatric Neurology
Herpes simplex encephalitis (HSE) is the most common sporadic viral encephalitis in the Western world. The pathogenesis of HSE, which affects a small minority of HSV-1-infected individuals, has long remained elusive. Mendelian defects in the TLR3-interferon (IFN) and IFN-responsive pathways were recently shown to predispose to HSE, at least in some children. Autosomal recessive STAT-1 deficiency and X-linked NEMO deficiency were found in children with both mycobacterial disease and HSE. Autosomal recessive UNC-93B deficiency and autosomal dominant TLR3 deficiency were then described in children with isolated HSE. These discoveries provided proof-of-principle that HSE may result from a novel group of single-gene inborn errors of interferon (IFN)-mediated immunity. The TLR3–UNC-93B-dependent production of IFN-α/β and IFN-λ is essential to confer protective immunity to HSV-1 in the central nervous system during the course of primary infection in childhood.
The Year in Human and Medical Genetics
The latest edition of The Year in Human and Medical Genetics is focused on exploring new trends in Mendelian genetics. While Mendelian genetics is often seen as an out-dated discipline of interest to rare patients and few scholars, there have been many ground-breaking discoveries have been made in Mendelian genetics in the last decade. Single-gene defects of known Mendelian phenotypes have been deciphered, and novel diagnostic and therapeutic means have been devised, thanks to these studies. Moreover, novel phenotypes have been explored from a Mendelian angle, including common phenotypes. This volume captures the most important topics in Mendelian genetics through thought-provoking reviews t...
Vogel and Motulsky's Human Genetics
The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
The Year in Human and Medical Genetics
The latest edition of The Year in Human and Medical Genetics is focused on exploring new trends in Mendelian genetics. While Mendelian genetics is often seen as an out-dated discipline of interest to rare patients and few scholars, there have been many ground-breaking discoveries have been made in Mendelian genetics in the last decade. Single-gene defects of known Mendelian phenotypes have been deciphered, and novel diagnostic and therapeutic means have been devised, thanks to these studies. Moreover, novel phenotypes have been explored from a Mendelian angle, including common phenotypes. This volume captures the most important topics in Mendelian genetics through thought-provoking reviews t...
Primary Immunodeficiency Diseases
The number of diagnosed cases of primary immunodeficiency diseases (PIDs) – a group of inborn disorders of the immune system – is growing rapidly, but misdiagnosis or late diagnosis still occurs in a significant number of patients, with serious consequences. This is the second edition of a practical reference textbook on PIDs that has been widely welcomed by scientists and clinicians from around the world. The new edition has been extensively revised to reflect advances in knowledge and includes various PIDs not previously covered. For each disease, information is provided on definition, etiology, clinical manifestations, diagnosis, and management. This book will represent an ideal resource for specialists when engaging in diagnosis, clinical decision-making, and treatment planning. It will also prove invaluable for doctors in training and other physicians and nurses who wish to learn more about PIDs.
After the Deportation
Examines the change in memory regime in postwar France, from one centered on the concentration camps to one centered on the Holocaust.
