GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited ...
Weitere Fragen
What are the 10 common genetic disorders?
What are common genetic disorders?
Down syndrome (Trisomy 21).
FragileX syndrome.
Klinefelter syndrome.
Triple-X syndrome.
Turner syndrome.
Trisomy 18.
Trisomy 13.
What is Type 4 Joubert syndrome?
Joubert syndrome type 4 (JBTS4) is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay.
What is Joubert syndrome type 33?
Description. Joubert syndrome (JBTS) represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.
What diseases can be detected through genetic testing?
What Can Genetic Testing Find?
cystic fibrosis.
Tay-Sachs disease.
sickle cell disease.
Down syndrome.
spina bifida.
Turner syndrome.
von Willebrand Disease.
albinism.
An official website of the United States government ... The https:// ensures that you are connecting to the official website and that any information you provide ...
Es fehlt: gabriele. q=
Bookshelf ID: NBK1116. Excerpt. GeneReviews, an ... Gabriele-de Vries Syndrome · Gaucher Disease ... Primary Coenzyme Q10 Deficiency Overview · Primary ...
22.02.2008 · Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or ...
Es fehlt: gabriele. NBK1116/
25.02.2008 · Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location ...
Es fehlt: NBK1116/ | Suchen mit:NBK1116/
GeneReviews (www.ncbi.nlm.nih.gov/books/NBK1116/) is a compendium of continually updated, expert-authored and peer-reviewed disease descriptions that relate ...
30.01.2006 · Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born ...
Es fehlt: NBK1116/ | Suchen mit:NBK1116/
22.09.2020 · This cohort study evaluates the analytical and clinical validity of genome sequencing as a comprehensive diagnostic genetic test for ...
25.11.2014 · The focus is on testing genes responsible for monogenic disorders and on other emerging applications such as pharmacogenomic profiling. The ...
Affected individuals are homozygous or compound heterozygous for the causative variants, and family members are verified carriers. In family JP, the second ...