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Topic Review
Diastrophic Dysplasia
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs.
  • 911
  • 24 Dec 2020
Topic Review
Prader-Willi Syndrome
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).
  • 911
  • 24 Dec 2020
Topic Review
EIF2AK4 Gene
Eukaryotic translation initiation factor 2 alpha kinase 4
  • 911
  • 25 Dec 2020
Topic Review
Attention-Deficit/Hyperactivity Disorder
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.
  • 911
  • 31 Dec 2020
Topic Review
GATA1 Gene
GATA binding protein 1
  • 911
  • 25 Dec 2020
Topic Review
21-hydroxylase deficiency
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 910
  • 23 Dec 2020
Topic Review
Vibratory Urticaria
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area.
  • 910
  • 23 Dec 2020
Topic Review
NOD2 Gene
nucleotide binding oligomerization domain containing 2
  • 910
  • 24 Dec 2020
Topic Review
Emanuel Syndrome
Emanuel syndrome is a chromosomal disorder that disrupts normal development and affects many parts of the body. Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability.  
  • 910
  • 25 Dec 2020
Topic Review
GDF3 Gene
Growth differentiation factor 3
  • 910
  • 25 Dec 2020
Topic Review
TNNT2 Gene
Troponin T2, cardiac type: The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle.
  • 910
  • 25 Dec 2020
Topic Review
Lenz Microphthalmia Syndrome
Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.
  • 909
  • 23 Dec 2020
Topic Review
Chromosome 6
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
  • 909
  • 24 Dec 2020
Topic Review
Factor XI Deficiency
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting.
  • 909
  • 25 Dec 2020
Topic Review
POGLUT1 Gene
protein O-glucosyltransferase 1
  • 909
  • 25 Dec 2020
Topic Review
Molecular Epidemiology across Cancer Types in Microsatellite Instability
Microsatellite instability (MSI) occurs in a wide variety of tumor types and is one of the most important predictive biomarkers for immune checkpoint inhibitor therapy.
  • 909
  • 23 Apr 2023
Topic Review
Trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
  • 908
  • 23 Dec 2020
Topic Review
Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
  • 908
  • 24 Dec 2020
Topic Review
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
  • 908
  • 24 Dec 2020
Topic Review
DSPP Gene
Dentin Sialophosphoprotein: The DSPP gene provides instructions for making a protein called dentin sialophosphoprotein. 
  • 908
  • 24 Dec 2020
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