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Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 871
  • 24 Dec 2020
Topic Review
C9orf72 Gene
chromosome 9 open reading frame 72
  • 871
  • 24 Dec 2020
Topic Review
X-linked Spondyloepiphyseal Dysplasia Tarda
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males.
  • 871
  • 24 Dec 2020
Topic Review
CPT1A Gene
carnitine palmitoyltransferase 1A
  • 871
  • 24 Dec 2020
Topic Review
PDHB Gene
pyruvate dehydrogenase E1 beta subunit
  • 871
  • 25 Dec 2020
Topic Review
POLH Gene
DNA polymerase eta
  • 871
  • 25 Dec 2020
Topic Review
Non-Invasive Genetic Assessment in Wildlife Research
Genetic and genomic analyses are powerful tools in wildlife research. They might be able to yield the same information on, e.g., population size, health, or diet composition as other wildlife research methods, and even provide additional data that would not be possible to obtain by alternative means. If genetic material is obtained non-invasively, this approach might have no or only minimal impact on animal welfare. Noninvasive genetic sampling sensu lato is defined as "obtaining DNA without affecting the physical integrity of the animal through puncturing the skin or other entry into the body".
  • 871
  • 04 Nov 2021
Topic Review
Globozoospermia
Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).
  • 870
  • 23 Dec 2020
Topic Review
BMPR2 Gene
bone morphogenetic protein receptor type 2
  • 870
  • 24 Dec 2020
Topic Review
FOLR1 Gene
Folate receptor 1
  • 870
  • 25 Dec 2020
Topic Review
Genotype-Phenotype Correlations
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4.
  • 870
  • 19 Jul 2021
Topic Review
Mitochondrial Microproteins in Athletic Performance and Age-Related Diseases
Mitochondrial microproteins (also called mitochondrial-derived peptides) are novel small proteins encoded in the mitochondrial DNA and modulate athletic performance and age-related diseases.
  • 870
  • 03 Feb 2023
Topic Review
Duckweed Species in Saudi Arabia
Duckweeds, or Lemnaceae, are widespread aquatic plants. Morphology-based identification of duckweed species is difficult because of their structural complexity. Hence, molecular tools provide significant advantages for characterizing and selecting species or clones for sustainable commercial use.
  • 870
  • 18 Nov 2021
Topic Review
Spina Bifida
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development.
  • 869
  • 23 Dec 2020
Topic Review
Larsen Syndrome
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.
  • 869
  • 23 Dec 2020
Topic Review
Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
  • 869
  • 24 Dec 2020
Topic Review
Autosomal Dominant Hyper-IgE Syndrome
Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, excessive inflammation can damage body tissues. Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. Frequent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.
  • 869
  • 24 Dec 2020
Topic Review
Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer.
  • 869
  • 24 Dec 2020
Topic Review
Schinzel-Giedion Syndrome
Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems.
  • 869
  • 24 Dec 2020
Topic Review
FBN1 Gene
Fibrillin 1: The FBN1 gene provides instructions for making a large protein called fibrillin-1. 
  • 869
  • 25 Dec 2020
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