Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 1 |
2013 | 1 |
2019 | 1 |
2020 | 1 |
2021 | 2 |
2023 | 2 |
2024 | 1 |
Search Results
7 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Am J Med Genet A. 2023 Jul;191(7):1783-1791. doi: 10.1002/ajmg.a.63202. Epub 2023 Apr 12.
Am J Med Genet A. 2023.
PMID: 37042183
Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.
Griessenauer CJ, Veith P, Mortazavi MM, Stewart C, Grochowsky A, Loukas M, Tubbs RS.
Griessenauer CJ, et al. Among authors: grochowsky a.
Childs Nerv Syst. 2013 Apr;29(4):543-7. doi: 10.1007/s00381-012-1982-7. Epub 2012 Dec 4.
Childs Nerv Syst. 2013.
PMID: 23207976
Review.
Item in Clipboard
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Summerlin ML, Regier DS, Fraser JL, Chapman KA, Kafashzadeh D, Billington C Jr, Kisling M, Grochowsky A, Ah Mew N, Shur N.
Summerlin ML, et al. Among authors: grochowsky a.
Am J Med Genet A. 2021 Feb;185(2):500-507. doi: 10.1002/ajmg.a.62000. Epub 2020 Dec 10.
Am J Med Genet A. 2021.
PMID: 33300687
Item in Clipboard
Clinical characteristics of individual organ system disease in non-motile ciliopathies.
Grochowsky A, Gunay-Aygun M.
Grochowsky A, et al.
Transl Sci Rare Dis. 2019 Jul 4;4(1-2):1-23. doi: 10.3233/TRD-190033.
Transl Sci Rare Dis. 2019.
PMID: 31763176
Free PMC article.
Item in Clipboard
Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
Schuler BA, Mosera M, Hatch LD, Grochowsky A, Wheeler F.
Schuler BA, et al. Among authors: grochowsky a.
J Perinatol. 2023 Dec;43(12):1500-1505. doi: 10.1038/s41372-023-01817-y. Epub 2023 Nov 1.
J Perinatol. 2023.
PMID: 37914812
Item in Clipboard
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Tekendo-Ngongang C, Grochowsky A, Solomon BD, Yano ST.
Tekendo-Ngongang C, et al. Among authors: grochowsky a.
Genes (Basel). 2021 Oct 22;12(11):1669. doi: 10.3390/genes12111669.
Genes (Basel). 2021.
PMID: 34828275
Free PMC article.
Item in Clipboard
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Iwata-Otsubo A, Skraban CM, Yoshimura A, Sakata T, Alves CAP, Fiordaliso SK, Kuroda Y, Vengoechea J, Grochowsky A, Ernste P, Lulis L, Nesbitt A, Tayoun AA, Gray C, Towne MC, Radtke K, Normand EA, Rhodes L, Seiler C, Shirahige K, Izumi K.
Iwata-Otsubo A, et al. Among authors: grochowsky a.
Hum Genet. 2024 Mar;143(3):437-453. doi: 10.1007/s00439-024-02656-3. Epub 2024 Mar 23.
Hum Genet. 2024.
PMID: 38520561
Item in Clipboard
Cite
Cite