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Topic Review
ASXL1 Gene
ASXL transcriptional regulator 1
  • 669
  • 24 Dec 2020
Topic Review
Recurrent Hydatidiform Mole
Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles.
  • 669
  • 24 Dec 2020
Topic Review
Common Genetic Model and Developmental Language Disorder
Monogenic causes of language disorders remain comparatively rare, and do not fully account for the developmental language disorders (DLD) prevalence rate of >7%. It is widely accepted that common risk variants confer a genetic susceptibility for DLDs. Termed ‘complex genetic model’, each variant contributes incrementally to an overall level of risk of developing a language disorder. Studies to identify these risk variants within a complex genetic model fall into two main approaches: linkage studies and genome-wide association studies (GWASs).
  • 669
  • 16 May 2022
Topic Review
LARGE1 Gene
LARGE xylosyl- and glucuronyltransferase 1
  • 668
  • 23 Dec 2020
Topic Review
DCXR Gene
Dicarbonyl and L-Xylulose Reductase: The DCXR gene provides instructions for making a protein called dicarbonyl and L-xylulose reductase (DCXR), which plays multiple roles in the body. 
  • 668
  • 23 Dec 2020
Topic Review
Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement.
  • 668
  • 24 Dec 2020
Topic Review
WDR19 Gene
WD repeat domain 19.
  • 667
  • 24 Dec 2020
Topic Review
RHO Gene
rhodopsin
  • 667
  • 24 Dec 2020
Topic Review
Palmoplantar Keratoderma with Deafness
Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss.
  • 667
  • 24 Dec 2020
Topic Review
Subcellular Localization of the Asp/ASPM Proteins
Investigations on different cell types showed that Asp (Drosophila abnormal spindle)/Aspm/ASPM (Abnormal Spindle-like Microcephaly-associated; or MCPH5) depletion disrupts one or more of the following mitotic processes: aster formation, spindle pole focusing, centrosome-spindle coupling, spindle orientation, metaphase-to-anaphase progression, chromosome segregation, and cytokinesis.
  • 667
  • 31 Mar 2023
Topic Review
PRPH2 Gene
peripherin 2
  • 666
  • 22 Dec 2020
Topic Review
IFIH1 Gene
Interferon induced with helicase C domain 1
  • 666
  • 23 Dec 2020
Topic Review
NHLRC1 Gene
NHL repeat containing E3 ubiquitin protein ligase 1
  • 666
  • 23 Dec 2020
Topic Review
IL7R Gene
Interleukin 7 receptor
  • 666
  • 23 Dec 2020
Topic Review
LHCGR Gene
Luteinizing hormone/choriogonadotropin receptor
  • 665
  • 23 Dec 2020
Topic Review
Keratoconus
Keratoconus is an eye condition that affects the shape of the cornea, which is the clear outer covering of the eye.
  • 665
  • 23 Dec 2020
Topic Review
CYP27A1 Gene
Cytochrome P450 Family 27 Subfamily A Member 1
  • 665
  • 23 Dec 2020
Topic Review
RAG2 Gene
recombination activating 2
  • 665
  • 23 Dec 2020
Topic Review
DOCK8 Gene
Dedicator of Cytokinesis 8
  • 665
  • 24 Dec 2020
Topic Review
ERCC8 Gene
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
  • 665
  • 24 Dec 2020
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