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Topic Review
EIF2B4 Gene
Eukaryotic translation initiation factor 2B subunit delta
  • 745
  • 25 Dec 2020
Topic Review
Gene–Diet Interactions on Metabolic Disease-Related Outcomes
Diabetes and obesity are chronic diseases that are a burden to low- and middle-income countries.
  • 745
  • 31 Jul 2023
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.
  • 745
  • 24 Dec 2020
Topic Review
GLI3 Gene
GLI family zinc finger 3
  • 744
  • 23 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.
  • 744
  • 22 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.
  • 744
  • 24 Dec 2020
Topic Review
SLURP1 Gene
secreted LY6/PLAUR domain containing 1
  • 744
  • 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.
  • 744
  • 24 Dec 2020
Topic Review
PGT-A for Elderly maternal
Preimplantation genetic testing for aneuploidies (PGT-A) is widely used in women of advanced maternal age (AMA). However, the effectiveness remains controversial.
  • 744
  • 18 Sep 2021
Topic Review
Metatropic Dysplasia
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities.
  • 744
  • 23 Dec 2020
Topic Review
Mitochondrial Complex III Deficiency
Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.
  • 744
  • 23 Dec 2020
Topic Review
NF2 Gene
neurofibromin 2
  • 743
  • 23 Dec 2020
Topic Review
Achromatopsia
Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.
  • 743
  • 23 Dec 2020
Topic Review
Isolated Congenital Asplenia
Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).
  • 742
  • 23 Dec 2020
Topic Review
ROR2 Gene
receptor tyrosine kinase like orphan receptor 2
  • 742
  • 24 Dec 2020
Topic Review
ARX Gene
aristaless related homeobox
  • 742
  • 24 Dec 2020
Topic Review
ATP1A2 Gene
ATPase Na+/K+ transporting subunit alpha 2
  • 742
  • 24 Dec 2020
Topic Review
NPHS2 Gene
NPHS2, podocin
  • 742
  • 24 Dec 2020
Topic Review
Vocal Deficits in Parkinson’s Disease
This reviews vocalization deficits in models of Parkinson disease.
  • 742
  • 29 Jul 2021
Topic Review
PITX2 Gene
paired like homeodomain 2
  • 742
  • 25 Dec 2020
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