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Topic Review
Lattice Corneal Dystrophy Type II
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body.
  • 717
  • 23 Dec 2020
Topic Review
Nonsyndromic Aplasia Cutis Congenita
Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.
  • 717
  • 24 Dec 2020
Topic Review
Melorheostosis
Melorheostosis is a rare bone disease.
  • 716
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
  • 716
  • 23 Dec 2020
Topic Review
ERCC2 Gene
ERCC excision repair 2, TFIIH core complex helicase subunit
  • 716
  • 24 Dec 2020
Topic Review
Other Histone Modifications Dynamics in Early Embryonic Development
Mammalian fertilization initiates the reprogramming of oocytes and sperm, forming a totipotent zygote. During this intricate process, the zygotic genome undergoes a maternal-to-zygotic transition (MZT) and subsequent zygotic genome activation (ZGA), marking the initiation of transcriptional control and gene expression post-fertilization. Histone modifications are pivotal in shaping cellular identity and gene expression in many mammals. 
  • 716
  • 30 Jan 2024
Topic Review
Opitz G/BBB Syndrome
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
  • 716
  • 24 Dec 2020
Topic Review
COL7A1 Gene
collagen type VII alpha 1 chain
  • 716
  • 24 Dec 2020
Topic Review
Mitochondrial Complex I Deficiency
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. Complex I is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex I is the first of five mitochondrial complexes that carry out a multi-step process called oxidative phosphorylation, through which cells derive much of their energy.
  • 715
  • 23 Dec 2020
Topic Review
COL11A2 Gene
collagen type XI alpha 2 chain
  • 715
  • 24 Dec 2020
Topic Review
Legg-Calvé-Perthes Disease
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls.
  • 714
  • 23 Dec 2020
Topic Review
SLC3A1 Gene
solute carrier family 3 member 1
  • 714
  • 24 Dec 2020
Topic Review
Pelizaeus-Merzbacher-Like Disease Type 1
Pelizaeus-Merzbacher-like disease type 1 is an inherited condition involving the brain and spinal cord (central nervous system).
  • 714
  • 24 Dec 2020
Topic Review
LAMA2 Gene
Laminin subunit alpha 2
  • 713
  • 23 Dec 2020
Topic Review
LRRK2 Gene
Leucine rich repeat kinase 2
  • 713
  • 23 Dec 2020
Topic Review
Left Ventricular Noncompaction
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs when the lower left chamber of the heart (left ventricle), which helps the heart pump blood, does not develop correctly.
  • 713
  • 23 Dec 2020
Topic Review
Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
  • 713
  • 24 Dec 2020
Topic Review
ZEB2 Gene
Zinc finger E-box binding homeobox 2
  • 713
  • 24 Dec 2020
Topic Review
SLC29A3 Gene
solute carrier family 29 member 3
  • 713
  • 24 Dec 2020
Topic Review
NSD1 Gene
nuclear receptor binding SET domain protein 1
  • 713
  • 24 Dec 2020
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