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The Anatomy of the Cerebral Cortex - Cerebral Ischemia - NCBI Bookshelf
The cerebral hemisphere consists of five lobes: frontal, parietal, temporal, occipital, and limbic lobe. Each cerebral hemisphere shows superomedial, inferior,...
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Domestic Violence - StatPearls - NCBI Bookshelf
Family and domestic violence including child abuse, intimate partner abuse, and elder abuse is a common problem in the United States. Family and domestic...
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Intrauterine Device Placement and Removal - StatPearls - NCBI Bookshelf
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Depression in Children - StatPearls - NCBI Bookshelf
Depressive disorders, as defined in the Diagnostic and Statistical Manual of Mental Disorders, 5th ed. (DSM–5), include major depressive disorder (MDD),...
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Autism Spectrum Disorders: Diagnosis and Treatment - Autism Spectrum Disorders - NCBI Bookshelf
The diagnostic criteria and treatment approaches of autism spectrum disorders (ASD) have changed greatly over the years. Currently, diagnosis is conducted...
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Borderline Personality Disorder - StatPearls - NCBI Bookshelf
Borderline personality disorder (BPD) is a mental health condition characterized by pervasive patterns of instability in mood, self-image, and interpersonal...
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Table 18, DSM-IV to DSM-5 Oppositional Defiant Disorder Comparison - DSM-5 Changes - NCBI Bookshelf
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Antisocial Personality Disorder - StatPearls - NCBI Bookshelf
Antisocial Personality Disorder (ASPD) is an adult diagnosis characterized by a persistent pattern of disregard for and violation of others' rights, beginning...
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Psychiatric Illness and Criminality - StatPearls - NCBI Bookshelf
The relationship between psychiatric illness and criminality has garnered public interest, particularly following numerous mass shootings in the United States....
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Narcissistic Personality Disorder - StatPearls - NCBI Bookshelf
Narcissistic personality disorder (NPD) is a pervasive pattern of grandiosity, a need for admiration, a lack of empathy, and a heightened sense of...
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Types of Parenting Styles and Effects on Children - StatPearls - NCBI Bookshelf
Parenting varies widely across families, with cultural backgrounds having a significant role in shaping family dynamics and child-rearing practices. Over the...
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Schizophrenia - StatPearls - NCBI Bookshelf
Schizophrenia is a disabling psychiatric condition impacting around 1% of people worldwide and ranking among the top 10 global disability causes.[1]...
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Sleep Disorder - StatPearls - NCBI Bookshelf
Sleep disorders are a group of conditions that disturb normal sleep patterns. Sleep disorders are one of the most common clinical problems encountered....
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Proteus Syndrome - GeneReviews® - NCBI Bookshelf
Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous...
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Leber Hereditary Optic Neuropathy - GeneReviews® - NCBI Bookshelf
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IDEDNIK Syndrome - GeneReviews® - NCBI Bookshelf
IDEDNIK syndrome is characterized by enteropathy, poor weight gain, growth deficiency, skin manifestations (ichthyosis, erythroderma, and keratoderma), sparse...
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Prader-Willi Syndrome - GeneReviews® - NCBI Bookshelf
Prader-Willi syndrome (PWS) is characterized by severe hypotonia, poor appetite, and feeding difficulties in early infancy, followed in early childhood by...
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SLC25A24 Fontaine Progeroid Syndrome - GeneReviews® - NCBI Bookshelf
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive...
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HEXA Disorders - GeneReviews® - NCBI Bookshelf
HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends...
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Spinocerebellar Ataxia Type 7 - GeneReviews® - NCBI Bookshelf
Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal...
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Cold-Induced Sweating Syndrome Including Crisponi Syndrome - GeneReviews® - NCBI Bookshelf
Cold-induced sweating syndrome (CISS) and its infantile presentation, Crisponi syndrome(CS) is characterized by dysmorphic features (distinctive facies, lower...
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PRSS1-Related Hereditary Pancreatitis - GeneReviews® - NCBI Bookshelf
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Beta-Thalassemia - GeneReviews® - NCBI Bookshelf
Beta-thalassemia (β-thalassemia) has two clinically significant forms, β-thalassemia major and β-thalassemia intermedia, caused by absent or reduced synthesis...
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National Guidelines for Physical Activity - StatPearls - NCBI Bookshelf
Regular physical activity is essential for maintaining good health and quality of life. Physical activity benefits everyone regardless of age, fitness level,...
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Sickle Cell Disease - GeneReviews® - NCBI Bookshelf
Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia...
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Woodhouse-Sakati Syndrome - GeneReviews® - NCBI Bookshelf
Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset...
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MELAS - GeneReviews® - NCBI Bookshelf
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of...
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AFF4-Related CHOPS Syndrome - GeneReviews® - NCBI Bookshelf
AFF4-related CHOPS syndrome is characterized by coarse facial features / cognitive impairment, heart defects, obesity, pulmonary involvement, and short stature...
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Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf
Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin...
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Argininosuccinate Lyase Deficiency - GeneReviews® - NCBI Bookshelf
Argininosuccinate lyase deficiency (ASLD), an inborn error of urea synthesis, may present as a neonatal- or late-onset disease.
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HIST1H1E Syndrome - GeneReviews® - NCBI Bookshelf
The name HIST1H1E syndrome has been proposed as a mnemonic for the characteristic features of this emerging, recognizable phenotype: hypotonia; intellectual...
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Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf
The purpose of this overview is to:
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https://www.ncbi.nlm.nih.gov/books/NBK1283/
Primary Hyperoxaluria Type 1 - GeneReviews® - NCBI Bookshelf
Primary hyperoxaluria type 1 (PH1) is caused by deficiency of the liver peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT), which catalyzes the...
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HPRT1 Disorders - GeneReviews® - NCBI Bookshelf
HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for...
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Metabolic Consequences of Weight Reduction - StatPearls - NCBI Bookshelf
Metabolism is a dedicated network of enzyme and metabolite-derived mechanisms that is a hallmark of life activities. A healthy metabolism is a basic necessity...
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https://www.ncbi.nlm.nih.gov/books/NBK54467/
EFEMP2-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial...
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Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf
Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later...
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GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited...
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Hemophilia B - GeneReviews® - NCBI Bookshelf
Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and...
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PLPBP Deficiency - GeneReviews® - NCBI Bookshelf
PLPBP deficiency is a treatable form of vitamin B6-dependent early-onset epileptic encephalopathy. Seizure onset is typically in the neonatal period (i.e.,...
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Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews® - NCBI Bookshelf
6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted...
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Physiology, Cortisol - StatPearls - NCBI Bookshelf
Cortisol, widely recognized as the principal stress hormone, exerts extensive influence over numerous physiological processes throughout the body. This hormone...
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GeneReviews Personnel - GeneReviews® - NCBI Bookshelf
Margaret P Adam, MD Professor, Pediatrics, University of Washington, Seattle; editor1@uw.edu
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Iron Supplementation - StatPearls - NCBI Bookshelf
Iron is a medication used in the management and treatment of iron deficiency anemia. This activity illustrates the indications, action, and contraindications...
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CHCHD10-Related Disorders - GeneReviews® - NCBI Bookshelf
CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic phenotypes that can include:
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Dipeptidyl Peptidase IV (DPP IV) Inhibitors - StatPearls - NCBI Bookshelf
Dipeptidyl peptidase 4 (DPP-4) inhibitors are a group of antihyperglycemic medications used to manage type 2 diabetes mellitus, which is a significant risk...
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GRIN2B-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf
GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected...
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Junctional Epidermolysis Bullosa - GeneReviews® - NCBI Bookshelf
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma....
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Spastic Paraplegia 8 - GeneReviews® - NCBI Bookshelf
Hereditary spastic paraplegia 8 (SPG8) is a slowly progressive pure spastic paraplegia of the lower limbs (i.e., pyramidal signs including hyperreflexia,...
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SLC25A19-Related Thiamine Metabolism Dysfunction - GeneReviews® - NCBI Bookshelf
SLC25A19-related thiamine metabolism dysfunction (SLC25A19 deficiency) is characterized by two phenotypes: Amish lethal microcephaly and thiamine metabolism...
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TNF Receptor-Associated Periodic Fever Syndrome - GeneReviews® - NCBI Bookshelf
TNF receptor-associated periodic fever syndrome (TRAPS) is characterized by episodes of inflammation typically occurring every four to six weeks and lasting...
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Wilms Tumor Predisposition - GeneReviews® - NCBI Bookshelf
The purpose of this GeneReview is to:
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Biotinidase Deficiency - GeneReviews® - NCBI Bookshelf
Individuals with biotinidase deficiency who are diagnosed before they have developed symptoms (e.g., by newborn screening) and who are treated with biotin have...
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TANGO2 Deficiency - GeneReviews® - NCBI Bookshelf
TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism....
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Dystrophic Epidermolysis Bullosa - GeneReviews® - NCBI Bookshelf
Dystrophic epidermolysis bullosa (DEB) is characterized by skin fragility manifested by blistering and erosions with minimal trauma. Many individuals also have...
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3-Hydroxyisobutyryl-CoA Hydrolase Deficiency - GeneReviews® - NCBI Bookshelf
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency can be categorized into three subtypes based on age of presentation. Neonatal onset, the least frequent...
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DFNA2 Nonsyndromic Hearing Loss - GeneReviews® - NCBI Bookshelf
DFNA2 nonsyndromic hearing loss is characterized by symmetric, predominantly high-frequency sensorineural hearing loss (SNHL) that is progressive across all...
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C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis - GeneReviews® - NCBI Bookshelf
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper...
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Lynch Syndrome - GeneReviews® - NCBI Bookshelf
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Spinocerebellar Ataxia Type 6 - GeneReviews® - NCBI Bookshelf
Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges...
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VPS13D Movement Disorder - GeneReviews® - NCBI Bookshelf
VPS13D movement disorder is a hyperkinetic movement disorder (dystonia, chorea, and/or ataxia) of variable age of onset that can be associated with...
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Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf
The purpose of this overview is to:
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Ketoacidosis - StatPearls - NCBI Bookshelf
Ketoacidosis is a metabolic state associated with pathologically high serum and urine concentrations of ketone bodies, namely acetone, acetoacetate, and...
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Holt-Oram Syndrome - GeneReviews® - NCBI Bookshelf
Holt-Oram syndrome (HOS) is characterized by the association of upper-limb defects, congenital heart malformations, and cardiac conduction disease. Upper-limb...
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Tyrosine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf
Tyrosine hydroxylase (TH) deficiency is associated with a broad phenotypic spectrum. Based on severity of symptoms/signs as well as responsiveness to levodopa...
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GNE Myopathy - GeneReviews® - NCBI Bookshelf
GNE myopathy is a slowly progressive muscle disease that typically presents between age 20 and 40 years with bilateral foot drop caused by anterior tibialis...
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Apert Syndrome - GeneReviews® - NCBI Bookshelf
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second...
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Arterial Tortuosity Syndrome - GeneReviews® - NCBI Bookshelf
Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of...
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Dopamine Beta-Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf
Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function resulting in profound deficits in autonomic...
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Autosomal Dominant Epilepsy with Auditory Features - GeneReviews® - NCBI Bookshelf
Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal...
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Hereditary Nephrogenic Diabetes Insipidus - GeneReviews® - NCBI Bookshelf
Hereditary nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production)...
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APC-Associated Polyposis Conditions - GeneReviews® - NCBI Bookshelf
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of...
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Udd Distal Myopathy – Tibial Muscular Dystrophy - GeneReviews® - NCBI Bookshelf
Udd distal myopathy – tibial muscular dystrophy (UDM-TMD) is characterized by weakness of ankle dorsiflexion and inability to walk on the heels after age 30...
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LAMA2 Muscular Dystrophy - GeneReviews® - NCBI Bookshelf
The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy type 1A...
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SPG7-Related Neurologic Disorder - GeneReviews® - NCBI Bookshelf
The phenotypic spectrum of SPG7-related neurologic disorder includes uncomplicated spastic ataxia, complicated spastic ataxia, spinocerebellar ataxia, and...
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Functional Dyspepsia - StatPearls - NCBI Bookshelf
Functional dyspepsia is one of the most prevalent functional gastrointestinal disorders, affecting over 20% of the population. The condition has 3...
functionaldyspepsiastatpearlsncbibookshelf
https://www.ncbi.nlm.nih.gov/books/NBK587318/
SOST-Related Sclerosing Bone Dysplasias - GeneReviews® - NCBI Bookshelf
SOST-related sclerosing bone dysplasias include SOST-related sclerosteosis and SOST-related endosteal hyperostosis, van Buchem type (van Buchem disease), both...
relatedbonencbibookshelf
https://www.ncbi.nlm.nih.gov/books/NBK615090/
CHEK2-Related Cancer Predisposition - GeneReviews® - NCBI Bookshelf
CHEK2-related cancer predisposition is predominantly characterized by an increased risk of female breast cancer. To a lesser extent there is an association...
relatedcancerncbibookshelf
https://www.ncbi.nlm.nih.gov/books/NBK1434/
Genetic Hearing Loss Overview - GeneReviews® - NCBI Bookshelf
The purpose of this GeneReview is to:
hearing lossgeneticoverviewncbibookshelf
https://www.ncbi.nlm.nih.gov/books/NBK1547/
Nonsyndromic Disorders of Testicular Development Overview - GeneReviews® - NCBI Bookshelf
The purpose of this overview is to:
development overviewdisorderstesticularncbibookshelf