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Topic Review
Cerebral Folate Transport Deficiency
Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain.
  • 740
  • 24 Dec 2020
Topic Review
Clouston Syndrome
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
  • 740
  • 24 Dec 2020
Topic Review
Congenital Generalized Lipodystrophy
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance.
  • 740
  • 24 Dec 2020
Topic Review
SLURP1 Gene
secreted LY6/PLAUR domain containing 1
  • 740
  • 24 Dec 2020
Topic Review
Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle).
  • 740
  • 25 Dec 2020
Topic Review
GRIN2A Gene
Glutamate ionotropic receptor NMDA type subunit 2A
  • 739
  • 22 Dec 2020
Topic Review
KAT6B Gene
Lysine acetyltransferase 6B
  • 739
  • 23 Dec 2020
Topic Review
ALG6-congenital Disorder of Glycosylation
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition.
  • 739
  • 23 Dec 2020
Topic Review
CLN8 Gene
CLN8, transmembrane ER and ERGIC protein
  • 739
  • 24 Dec 2020
Topic Review
Dyserythropoietic Anemia and Thrombocytopenia
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells.
  • 739
  • 24 Dec 2020
Topic Review
CtDNA in Colorectal Cancer
Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA in the bloodstream that was shed from primary and/or metastatic tumors.
  • 739
  • 29 Jun 2021
Topic Review
PRRT2 Gene
proline rich transmembrane protein 2
  • 738
  • 22 Dec 2020
Topic Review
Mucolipidosis Type IV
Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.
  • 738
  • 23 Dec 2020
Topic Review
Von Willebrand Disease
Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury.
  • 738
  • 23 Dec 2020
Topic Review
EVC2 Gene
EvC ciliary complex subunit 2
  • 738
  • 24 Dec 2020
Topic Review
Drought-Adapted Mediterranean Diet Plants
The Mediterranean diet features plant-based foods renowned for their health benefits derived from bioactive compounds.
  • 738
  • 20 Feb 2024
Topic Review
GPI Gene
Glucose-6-phosphate isomerase
  • 737
  • 22 Dec 2020
Topic Review
STAC3 Gene
SH3 and cysteine rich domain 3: The STAC3 gene provides instructions for making a protein whose function is not completely understood.
  • 737
  • 22 Dec 2020
Topic Review
Adenylosuccinate Lyase Deficiency
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.
  • 737
  • 24 Dec 2020
Topic Review
Complement Component 8 Deficiency
Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria.
  • 737
  • 24 Dec 2020
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