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 |
---|---|
2015 | 1 |
2020 | 2 |
2021 | 2 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1.
J Inherit Metab Dis. 2021.
PMID: 33583022
Free PMC article.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V.
Schoch K, et al.
Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23.
Genet Med. 2021.
PMID: 33093671
Free PMC article.
Item in Clipboard
Maternal high-fat diet is associated with impaired fetal lung development.
Mayor RS, Finch KE, Zehr J, Morselli E, Neinast MD, Frank AP, Hahner LD, Wang J, Rakheja D, Palmer BF, Rosenfeld CR, Savani RC, Clegg DJ.
Mayor RS, et al.
Am J Physiol Lung Cell Mol Physiol. 2015 Aug 15;309(4):L360-8. doi: 10.1152/ajplung.00105.2015. Epub 2015 Jun 19.
Am J Physiol Lung Cell Mol Physiol. 2015.
PMID: 26092997
Free PMC article.
Item in Clipboard
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH.
Ng BG, et al.
J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5.
J Inherit Metab Dis. 2020.
PMID: 32681751
Free PMC article.
Item in Clipboard
Cite
Cite