Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Angela Grochowsky"'
Publikováno v:
Genes
FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b7660a474e7292f3531ea7be872a241
https://pubmed.ncbi.nlm.nih.gov/34828275
https://pubmed.ncbi.nlm.nih.gov/34828275
Autor:
Meral Gunay-Aygun, Angela Grochowsky
Publikováno v:
Translational Science of Rare Diseases
Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oral-facial-digital syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf401fba0ae01814b1351d43e8da8684
https://doi.org/10.3233/trd-190033
https://doi.org/10.3233/trd-190033
Autor:
Jamie L. Fraser, Dariush Kafashzadeh, Monisha S. Kisling, Maxwell L Summerlin, Natasha Shur, Charles J. Billington, Debra S Regier, Kimberly A. Chapman, Nicholas Ah Mew, Angela Grochowsky
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(2)
Current rhabdomyolysis treatment guidelines vary based on the etiology and diagnosis, yet many cases evade conclusive diagnosis. In these cases, treatment options remain largely limited to fluids and supportive therapy. We present two cases of acute
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb2e0e1e71eab0724de57e8e09ebd579
https://pubmed.ncbi.nlm.nih.gov/33300687
https://pubmed.ncbi.nlm.nih.gov/33300687
Publikováno v:
Genetics in Medicine. 24:S249
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f31531eef6d45dcf6f45dce2f34e6496
https://doi.org/10.1016/j.gim.2022.01.431
https://doi.org/10.1016/j.gim.2022.01.431
Autor:
Bryce Schuler, Erica Nelson, Natalie Owen, Ellen Strickler, Neena Agrawal, Rizwan Hamid, Angela Grochowsky, Thomas Morgan, John Phillips
Publikováno v:
Genetics in Medicine. 24:S19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b243e88d1c60fc43038e9ce4284f6573
https://doi.org/10.1016/j.gim.2022.01.067
https://doi.org/10.1016/j.gim.2022.01.067
Publikováno v:
Genes, Vol 12, Iss 1669, p 1669 (2021)
Genes
Volume 12
Issue 11
Genes
Volume 12
Issue 11
FMR1 (FMRP translational regulator 1) variants other than repeat expansion are known to cause disease phenotypes but can be overlooked if they are not accounted for in genetic testing strategies. We collected and reanalyzed the evidence for pathogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc7f45cc507a4da1808d9f7f42ab649a
https://doi.org/10.3390/genes12111669
https://doi.org/10.3390/genes12111669
Autor:
Philip Veith, Marios Loukas, Christoph J. Griessenauer, Angela Grochowsky, Martin M. Mortazavi, Carrie Stewart, R. Shane Tubbs
Publikováno v:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 29(4)
Enlarged parietal foramina are variable ossification defects in the parietal bones that present as symmetric radiolucencies on skull radiographs. In contrast to the normal small parietal foramina, enlarged parietal foramina are a hereditary condition
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbd484440870350c3706edf59a378e42
https://pubmed.ncbi.nlm.nih.gov/23207976
https://pubmed.ncbi.nlm.nih.gov/23207976