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Topic Review
KCNQ4 Gene
Potassium voltage-gated channel subfamily Q member 4
  • 665
  • 23 Dec 2020
Topic Review
KRT6A Gene
Keratin 6A
  • 665
  • 01 May 2021
Topic Review
Craniofacial-Deafness-Hand Syndrome
Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities.
  • 665
  • 24 Dec 2020
Topic Review
Inhibitor of Growth 1
The Inhibitor of Growth (ING) proteins constitute a family of tumor suppressors with five conserved genes in humans and mice, most of them producing several protein products through alternative splicing events.
  • 665
  • 04 Jul 2022
Topic Review
HSPB8 Gene
Heat shock protein family B (small) member 8
  • 664
  • 23 Dec 2020
Topic Review
CLN6 Gene
CLN6, transmembrane ER protein
  • 664
  • 24 Dec 2020
Topic Review
D-bifunctional Protein Deficiency
D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.
  • 664
  • 24 Dec 2020
Topic Review
Microcephaly-Capillary Malformation Syndrome
Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
  • 664
  • 23 Dec 2020
Topic Review
Mal de Meleda
Mal de Meleda is a rare skin disorder that begins in early infancy.
  • 663
  • 23 Dec 2020
Topic Review
Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe.
  • 663
  • 23 Dec 2020
Topic Review
Hereditary Neuralgic Amyotrophy
Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.
  • 663
  • 23 Dec 2020
Topic Review
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among affected individuals.
  • 663
  • 23 Dec 2020
Topic Review
Nail-patella Syndrome
Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.
  • 663
  • 23 Dec 2020
Topic Review
Enhancers in the Heart
Enhancers positively influence the activity of its target gene by operating at long-range distances in either direction of the nucleotide sequence. Early heart development is tightly controlled by these cis-regulatory elements and mutations affecting them have been shown to result in devastating forms of congenital heart defect. Therefore, identifying enhancers implicated in heart biology and understanding their mechanism is key to improve diagnosis and therapeutic options.
  • 663
  • 21 Apr 2021
Topic Review
CUL7 Gene
Cullin 7: The CUL7 gene provides instructions for making a protein called cullin-7.
  • 662
  • 23 Dec 2020
Topic Review
MiRNAs in IR and EC
Endometrial cancer (EC) remains one of the most common cancers of the female reproductive system. Epidemiological and clinical data implicate insulin resistance (IR) and its accompanying hyperinsulinemia as key factors in the development of EC. MicroRNAs (miRNAs) are short molecules of non-coding endogenous RNA that function as post-transcriptional regulators. Accumulating evidence has shown that the miRNA expression pattern is also likely to be associated with EC risk factors. 
  • 661
  • 18 Sep 2020
Topic Review
SAMD9L Gene
sterile alpha motif domain containing 9 like
  • 661
  • 24 Dec 2020
Topic Review
NDP Gene
NDP, norrin cystine knot growth factor
  • 660
  • 23 Dec 2020
Topic Review
Microvillus Inclusion Disease
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.
  • 660
  • 23 Dec 2020
Topic Review
Leptin Receptor Deficiency
Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 660
  • 24 Dec 2020
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