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Topic Review
Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia).
  • 817
  • 23 Dec 2020
Topic Review
Leprosy
Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person.
  • 817
  • 23 Dec 2020
Topic Review
Li-Fraumeni Syndrome
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
  • 817
  • 24 Dec 2020
Topic Review
PARK7 Gene
Parkinsonism associated deglycase
  • 817
  • 25 Dec 2020
Topic Review
Multiminicore Disease
Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.
  • 816
  • 23 Dec 2020
Topic Review
EBP Gene
EBP, cholestenol delta-isomerase
  • 816
  • 24 Dec 2020
Topic Review
SLC25A4 Gene
solute carrier family 25 member 4
  • 816
  • 24 Dec 2020
Topic Review
AKT3 Gene
AKT serine/threonine kinase 3
  • 816
  • 24 Dec 2020
Topic Review
POLR3B Gene
RNA polymerase III subunit B
  • 815
  • 25 Dec 2020
Topic Review
SYNE1 Gene
Spectrin repeat containing nuclear envelope protein 1: The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain.
  • 815
  • 24 Dec 2020
Topic Review
F12 Gene
Coagulation factor XII
  • 815
  • 24 Dec 2020
Topic Review
REN Gene
renin
  • 814
  • 23 Dec 2020
Topic Review
Lysinuric Protein Intolerance
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein.
  • 814
  • 24 Dec 2020
Topic Review
SFTPC Gene
surfactant protein C
  • 814
  • 24 Dec 2020
Topic Review
SLC26A4 Gene
solute carrier family 26 member 4
  • 814
  • 05 Apr 2021
Topic Review
NTRK1 Gene
neurotrophic receptor tyrosine kinase 1
  • 814
  • 24 Dec 2020
Topic Review
OPA3 Gene
OPA3, outer mitochondrial membrane lipid metabolism regulator
  • 814
  • 24 Dec 2020
Topic Review
PIK3R2 Gene
phosphoinositide-3-kinase regulatory subunit 2
  • 814
  • 25 Dec 2020
Topic Review
MSH6 Gene
mutS homolog 6
  • 813
  • 23 Dec 2020
Topic Review
TYROBP Gene
TYRO protein tyrosine kinase binding protein.
  • 813
  • 23 Dec 2020
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