Congenital genetic disorders
-
Updating researchers on phenomenal progress in the field of molecular medicine the Encyclopedia of Medical Genomics and Proteomics offers trail-blazing studies and authoritative contributions from more than 400 specialists. Topics include: Molecular diagnostics; Genomics, microbiology, genetics, and pharmacogenetics; Management of infectious, neoplastic, and genetic diseases;...
1391p vimeyers 29-05-2024 3 2 Download
-
Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory.
13p vibransone 28-03-2024 3 2 Download
-
Congenital heart disease (CHD) occurs in almost 1% of newborn children and is considered a multifactorial disorder. CHD may segregate in families due to significant contribution of genetic factors in the disease etiology. The aim of the study was to identify pathophysiological mechanisms in families segregating CHD.
13p vibransone 28-03-2024 4 2 Download
-
Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more.
10p vioraclene 31-03-2024 8 2 Download
-
Part 2 book "Large animal neurology" includes content: Congenital, familial and genetic disorders; infectious, inflammatory and immune diseases; physical, chemical and thermal causes; toxic diseases; nutritional diseases; metabolic diseases; neoplasms and other tumors; multifactorial and idiopathic disorders,... and other contents.
384p muasambanhan07 20-02-2024 3 0 Download
-
Ebook "Current topics in developmental biology (Volume 1)" provides both a unique perspective and a much needed resource. Work in zebrafish disease models has expanded beyond genetic disorders and developmental defects, and there is now an active and growing community of researchers studying a range of diseases in zebrafish.
373p lucchinguyen 28-12-2023 4 2 Download
-
Part 2 book "Management of pregnant and neonatal dogs, cats, and exotic pets" includes content: Feline neonatal disorders, canine and feline congenital defects and genetic counseling, management of orphan puppies and kittens, reproductive physiology, normal neonatology, and neonatal disorders of rabbits, reproductive physiology, normal neonatology, and neonatal disorders of cavies (guinea pigs);... and other contents.
166p muasambanhan01 13-12-2023 6 4 Download
-
Severe congenital neutropenia (SCN) is an exceptionally rare genetic disorder associated with life-threatening bacterial infections. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 40 - 55% of the genetic causes.
6p vischultz 17-10-2023 4 2 Download
-
Part 1 book "Pathophysiology for the health professions" includes content: Introduction to pathophysiology, inflammation and healing, immunity and abnormal responses, infection, neoplasms, congenital and genetic disorders, diseases associated with adolescence, aging and disease processes, potential complications of pregnancy,... and other contents.
350p oursky04 05-09-2023 5 0 Download
-
Part 1 book "Very’s neonatology board review - Certification and clinical refresher" includes content: Labor and delivery, fetal assessment and treatment, cardiac development, cardiovascular physiology, presentation of congenital heart disease, cardiopulmonary dysfunction, pharmacologic therapy of heart disease, molecular genetics, patterns of congenital disorders, evaluation of infants with congenital anomalies,.... and other contents.
271p oursky04 05-09-2023 1 0 Download
-
Part 1 book "Pathophysiology" includes content: Cell structure and function, tissue adaptation and injury, tissue adaptation and injury, genetic and congenital disorders, alterations in cell growth and replication - neoplasia, alterations in fluids, electrolytes, and acid base balance; stress and adaptation, the immune response, alterations in the immune response,... and other contents.
446p oursky04 05-09-2023 3 1 Download
-
Part 2 book "Pediatric dentistry - Infancy through adolescence" includes content: Prevention of dental disease; introduction to dental trauma; congenital genetic disorders and syndromes; the dynamics of change; examination, diagnosis, and treatment planning; dental materials, restorative dentistry for the primary dentition, pulp therapy for the primary dentition,...and other contents.
635p oursky03 28-08-2023 1 1 Download
-
Part 2 book "Emery’s elements of medical genetics" includes content: Congenital abnormalities, dysmorphic syndromes, and learning disability; chromosome disorders; inborn errors of metabolism; mainstream monogenic disorders; genetic counseling, mainstream monogenic disorders; prenatal testing and reproductive genetics; ethical and legal issues in medical genetics.
186p oursky03 21-08-2023 3 2 Download
-
Congenital skeletal malformations represent a heterogeneous group of disorders affecting bone and cartilage development. In cattle, particular chondrodysplastic forms have been identified in several miniature breeds.
9p vihagrid 30-01-2023 5 3 Download
-
Skin lesions and dermatoses in cattle are often associated with infections due to bacteria, fungi or environmental risk factors. Dermatoses with genetic etiology have been described in cattle. Among these rare disorders, there are primary congenital dermatoses that are associated with inherited nutritional deficiencies, such as bovine hereditary zinc deficiency or zinc deficiency-like syndrome.
10p vihagrid 30-01-2023 5 3 Download
-
Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595–9940) is a previously reported recessively inherited disorder in Australian Poll Merino/Merino sheep. Affected lambs are stillborn with various congenital defects as reflected in the name of the disease, as well as short stature, a short and broad cranium, a small thoracic cavity, thin ribs and brachysternum.
11p vihagrid 30-01-2023 8 3 Download
-
Most congenital heart defects (CHDs) result from complex interactions among genetic susceptibilities, epigenetic modifications, and maternal environmental exposures. Characterizing the complex relationship between genetic, epigenetic, and transcriptomic variation will enhance our understanding of pathogenesis in this important type of congenital disorder.
12p vihagrid 30-01-2023 7 3 Download
-
The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies.
3p vihagrid 30-01-2023 5 3 Download
-
Part 1 of ebook "Medical disorders in pregnancy" provide readers with content about: maternal mortality in the twenty-first century; cancer in pregnancy; opioid use disorders and pregnancy; pregnancy in women with obesity; management of obstructive sleep apnea in pregnancy; maternal genetic disorders in pregnancy; maternal congenital heart disease in pregnancy;... Please refer to the part 1 of ebook for details!
120p duonghoanglacnhi 07-11-2022 10 6 Download
-
Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales.
9p vidarwin 22-02-2022 6 1 Download