Hereditary Genetics: Current Research

671 posts

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Hereditary Genetics: Current Research

Hereditary Genetics: Current Research

@CurrentGenetics

Hereditary Genetics Current Research is a peer reviewed scientific, open access journal known for rapid dissemination of high-quality research.

Katılım Ocak 2022
1 Takip Edilen72 Takipçiler
Hereditary Genetics: Current Research
#Feingold syndrome is an #autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
#FG syndrome type 1 is an #X-linked genetic disorder that is characterized by poor muscle tone , intellectual disability, constipation and or anal anomalies. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
#Joubert syndrome is a #rare genetic condition characterized by abnormal brain development that includes the absence or underdevelopment of the cerebellar vermis and a malformed brain stem. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
#Kniest dysplasia happens because of a #gene change. The changed gene causes a problem with the growth plate of the bone, which leads to abnormal bone growth and shape. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
#Li-Fraumeni syndrome is a rare #hereditary or genetic disorder that increases the risk you and your family members will develop cancer. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
#Krabbe disease is a rare, #inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
#Lesch-Nyhan syndrome (LNS) is a rare, #inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
Hereditary Genetics: Current Research@CurrentGenetics·
#Li-Fraumeni syndrome is a rare #hereditary or genetic disorder that increases the risk you and your family members will develop cancer. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
Hereditary Genetics: Current Research@CurrentGenetics·
#Maroteaux-Lamy syndrome is a rare #genetic disorder characterized by complete or partial lack of activity of the enzyme arylsulfatase B, encoded by the ARSB gene. Follow:Hereditary Genetics: Current Research
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Hereditary Genetics: Current Research
Hereditary Genetics: Current Research@CurrentGenetics·
McCune-Albright syndrome is a genetic condition that affects your bones, skin and endocrine system, causing skin pigmentation, scar tissue forming on bones and irregular function of growth-regulating glands that produce hormones. Follow:Hereditary Genetics: Current Research
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