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Topic Review
GLI3 Gene
GLI family zinc finger 3
  • 737
  • 23 Dec 2020
Topic Review
GPI Gene
Glucose-6-phosphate isomerase
  • 737
  • 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.
  • 737
  • 24 Dec 2020
Topic Review
Early Prenatal Alcohol Exposure
Prenatal alcohol exposure (PAE) is the underlying cause for a variety of birth defects referred to as Fetal Alcohol Spectrum Disorders (FASD).
  • 737
  • 03 Aug 2021
Topic Review
ATP1A2 Gene
ATPase Na+/K+ transporting subunit alpha 2
  • 737
  • 24 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.
  • 736
  • 23 Dec 2020
Topic Review
DARS2 Gene
Aspartyl-tRNA Synthetase 2, Mitochondrial: The DARS2 gene provides instructions for making an enzyme called mitochondrial aspartyl-tRNA synthetase. 
  • 736
  • 23 Dec 2020
Topic Review
DCTN1 Gene
Dynactin Subunit 1: The DCTN1 gene provides instructions for making a protein called dynactin-1. 
  • 736
  • 23 Dec 2020
Topic Review
CDKN1C Gene
cyclin dependent kinase inhibitor 1C
  • 736
  • 24 Dec 2020
Topic Review
NPHS2 Gene
NPHS2, podocin
  • 735
  • 24 Dec 2020
Topic Review
DNA Methylation Episignatures in Neurodevelopmental Disorders
Large structural chromosomal deletions and duplications, referred to as copy number variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) through effects on gene dosage. 
  • 735
  • 08 Aug 2022
Topic Review
NF2 Gene
neurofibromin 2
  • 734
  • 23 Dec 2020
Topic Review
Infantile-Onset Spinocerebellar Ataxia
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
  • 734
  • 23 Dec 2020
Topic Review
ARX Gene
aristaless related homeobox
  • 734
  • 24 Dec 2020
Topic Review
IDH1 Gene
Isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • 733
  • 23 Dec 2020
Topic Review
ROR2 Gene
receptor tyrosine kinase like orphan receptor 2
  • 733
  • 24 Dec 2020
Topic Review
CRPPA Gene
CDP-L-ribitol pyrophosphorylase A
  • 733
  • 24 Dec 2020
Topic Review
PITX2 Gene
paired like homeodomain 2
  • 733
  • 25 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.
  • 733
  • 18 Sep 2021
Topic Review
Malignant Hyperthermia
Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures.
  • 732
  • 23 Dec 2020
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