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Topic Review
SYNGAP1-Related Intellectual Disability
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. 
  • 737
  • 24 Dec 2020
Topic Review
GLI3 Gene
GLI family zinc finger 3
  • 736
  • 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.
  • 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
ATP1A2 Gene
ATPase Na+/K+ transporting subunit alpha 2
  • 736
  • 24 Dec 2020
Topic Review
CDKN1C Gene
cyclin dependent kinase inhibitor 1C
  • 736
  • 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).
  • 736
  • 03 Aug 2021
Topic Review
NPHS2 Gene
NPHS2, podocin
  • 734
  • 24 Dec 2020
Topic Review
Genetic Control of Avian Migration
Twice-a-year, large-scale movement of billions of birds across latitudinal gradients is one of the most fascinating behavioral phenomena seen among animals. These seasonal voyages in autumn southwards and in spring northwards occur within a discrete time window and, as part of an overall annual itinerary, involve close interaction of the endogenous rhythm at several levels with prevailing photoperiod and temperature. The overall success of seasonal migrations thus depends on their close coupling with the other annual sub-cycles, namely those of the breeding, post-breeding recovery, molt and non-migratory periods. There are striking alterations in the daily behavior and physiology with the onset and end of the migratory period, as shown by the phase inversions in behavioral (a diurnal passerine bird becomes nocturnal and flies at night) and neural activities. Interestingly, there are also differences in the behavior, physiology and regulatory strategies between autumn and spring (vernal) migrations. Concurrent molecular changes occur in regulatory (brain) and metabolic (liver, flight muscle) tissues, as shown in the expression of genes particularly associated with 24 h timekeeping, fat accumulation and the overall metabolism.
  • 734
  • 16 Jun 2023
Topic Review
IDH1 Gene
Isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • 733
  • 23 Dec 2020
Topic Review
NF2 Gene
neurofibromin 2
  • 733
  • 23 Dec 2020
Topic Review
Infantile-Onset Spinocerebellar Ataxia
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system.
  • 733
  • 23 Dec 2020
Topic Review
ROR2 Gene
receptor tyrosine kinase like orphan receptor 2
  • 733
  • 24 Dec 2020
Topic Review
ARX Gene
aristaless related homeobox
  • 733
  • 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.
  • 733
  • 18 Sep 2021
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. 
  • 733
  • 08 Aug 2022
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
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).
  • 732
  • 23 Dec 2020
Topic Review
CRPPA Gene
CDP-L-ribitol pyrophosphorylase A
  • 732
  • 24 Dec 2020
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