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Topic Review
Hereditary Sensory Neuropathy Type IA
Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy).
  • 607
  • 23 Dec 2020
Topic Review
KRT16 Gene
Keratin 16
  • 607
  • 23 Dec 2020
Topic Review
RPGR Gene
retinitis pigmentosa GTPase regulator
  • 607
  • 24 Dec 2020
Topic Review
MYO7A Gene
myosin VIIA
  • 606
  • 23 Dec 2020
Topic Review
Hypomyelination and Congenital Cataract
Hypomyelination and congenital cataract is an inherited condition that affects the nervous system and the eyes.
  • 606
  • 23 Dec 2020
Topic Review
GNA11 Gene
G protein subunit alpha 11
  • 603
  • 23 Dec 2020
Topic Review
KCNE1 Gene
Potassium voltage-gated channel subfamily E regulatory subunit 1
  • 603
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type VII
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.
  • 603
  • 23 Dec 2020
Topic Review
DPY19L2 Gene
Dpy-19 Like 2
  • 602
  • 24 Dec 2020
Topic Review
HLA-DQA1 Gene
Major histocompatibility complex, class II, DQ alpha 1
  • 601
  • 22 Dec 2020
Topic Review
RNA Biomarkers and Bipolar Disorder
Bipolar disorder (BD) is a severe chronic disorder that represents one of the main causes of disability among young people. To date, no reliable biomarkers are available to inform the diagnosis of BD or clinical response to pharmacological treatment. Studies focused on coding and noncoding transcripts may provide information complementary to genome-wide association studies, allowing to correlate the dynamic evolution of different types of RNAs based on specific cell types and developmental stage with disease development or clinical course. 
  • 601
  • 13 Jul 2023
Topic Review
Hepatic Veno-Occlusive Disease with Immunodeficiency
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a hereditary disorder of the liver and immune system. Its signs and symptoms appear after the first few months of life. Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins in the liver, disrupting blood flow in this organ. This condition can lead to enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic fibrosis), and liver failure.
  • 599
  • 23 Dec 2020
Topic Review
Applications of Azanucleoside Analogs as DNA Demethylating Agents
Azanucleosides, such as 5-azacytidine and decitabine, are DNA demethylating agents used in the treatment of acute myeloid leukemia and myelodysplastic syndromes.
  • 599
  • 23 Jul 2023
Topic Review
Relevance of Genetic Identification in Natural Catastrophes
Different types of catastrophes, including from natural causes, armed conflicts and different acts of terrorism, lead not only to movement and disappearance but also to the death of civilians, demanding a prompt and effective response concerning the identification and delivery of individuals to their families.
  • 596
  • 14 Jul 2023
Topic Review
Niemann–Pick Type C—Leaky Variants and Alternative Transcripts
Niemann–Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites.
  • 596
  • 25 Mar 2024
Topic Review
HPS3 Gene
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
  • 595
  • 23 Dec 2020
Topic Review
Clinical Genetics of Inherited Arrhythmogenic Disease in children
Sudden death is a rare event in the pediatric population but with a social shock due to its presentation as the first symptom in previously healthy children. Comprehensive autopsy in pediatric cases identify an inconclusive cause in 40–50% of cases. In such cases, a diagnosis of sudden arrhythmic death syndrome is suggested as the main potential cause of death. Molecular autopsy identifies nearly 30% of cases under 16 years of age carrying a pathogenic/potentially pathogenic alteration in genes associated with any inherited arrhythmogenic disease. In the last few years, despite the increasing rate of post-mortem genetic diagnosis, many families still remain without a conclusive genetic cause of the unexpected death.
  • 595
  • 12 Jan 2022
Topic Review
TWIST1 Gene
Twist family bHLH transcription factor 1.
  • 594
  • 23 Dec 2020
Topic Review
KCNJ1 Gene
Potassium voltage-gated channel subfamily J member 1
  • 594
  • 23 Dec 2020
Topic Review
CYBB Gene
Cytochrome B-245 Beta Chain: The CYBB gene provides instructions for making a protein called cytochrome b-245, beta chain (also known as p91-phox).
  • 594
  • 23 Dec 2020
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