[HTML][HTML] GeneReviews®
CR Haldeman-Englert, T Jewett, JG Mulle… - 1993 - europepmc.org
… GeneReviews chapter is updated every four to five years (or as needed) by the author(s) in a
formal and comprehensive process curated by the GeneReviews… used in GeneReviews are …
formal and comprehensive process curated by the GeneReviews… used in GeneReviews are …
GeneReviews®[Internet]
MP Adam, J Feldman, GM Mirzaa, RA Pagon… - 1993 - pubmed.ncbi.nlm.nih.gov
… GeneReviews chapter is updated every four to five years (or as needed) by the author(s)
in a formal and comprehensive process curated by the GeneReviews … in GeneReviews are …
in a formal and comprehensive process curated by the GeneReviews … in GeneReviews are …
[HTML][HTML] GeneReviews glossary
MP Adam, J Feldman, GM Mirzaa, RA Pagon… - GeneReviews® …, 2024 - ncbi.nlm.nih.gov
A chemical substance of interest; a biologic component whose properties (eg, concentration,
presence, absence) can be indicators of human disease; in inherited conditions properties …
presence, absence) can be indicators of human disease; in inherited conditions properties …
RNU4atac-opathy
A Duker, D Velasco, N Robertson, AP Jackson… - …, 2023 - research.ed.ac.uk
GeneReviews® chapters are owned by the University of Washington. Permission is hereby
granted to reproduce, distribute, and translate copies of content materials for noncommercial …
granted to reproduce, distribute, and translate copies of content materials for noncommercial …
Emery-Dreifuss muscular dystrophy
G Bonne, F Leturcq, RB Yaou - Gene Reviews, 2019 - hal.sorbonne-universite.fr
… condition discussed in this GeneReview. (3) In some laboratories, panel options may include
… GeneReviews is not responsible for the information provided by other organizations. For …
… GeneReviews is not responsible for the information provided by other organizations. For …
[PDF][PDF] Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993 2017.
J Rutten, SAJL Oberstein - academia.edu
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy) is characterized by midadult onset of recurrent ischemic stroke, cognitive …
leukoencephalopathy) is characterized by midadult onset of recurrent ischemic stroke, cognitive …
Primary coenzyme Q10 deficiency
CLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually
associated with multisystem involvement, including neurologic manifestations such as fatal …
associated with multisystem involvement, including neurologic manifestations such as fatal …
[PDF][PDF] Deafness and hereditary hearing loss overview
… Links are provided to the disorders profiled in GeneReviews. … GeneReviews designates a
molecular genetic test as … Note: It is the policy of GeneReviews to include in GeneReviews™ …
molecular genetic test as … Note: It is the policy of GeneReviews to include in GeneReviews™ …
Urea cycle disorders overview
RA Pagon, MP Adam, HH Ardinger, TD Bird… - GeneReviews …, 1993 - hero.epa.gov
CLINICAL CHARACTERISTICS: The urea cycle disorders (UCD) result from defects in the
metabolism of waste nitrogen from the breakdown of protein and other nitrogen-containing …
metabolism of waste nitrogen from the breakdown of protein and other nitrogen-containing …
[HTML][HTML] GeneTests: an online genetic information resource for health care providers
RA Pagon - Journal of the Medical Library Association, 2006 - ncbi.nlm.nih.gov
… This paper primarily discusses the development and content of the GeneReviews portion
of GeneTests, focusing on the need for the resource, issues in its development, and future …
of GeneTests, focusing on the need for the resource, issues in its development, and future …