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 |
---|---|
1997 | 1 |
1998 | 1 |
2017 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Brain. 2023 Apr 19;146(4):1373-1387. doi: 10.1093/brain/awac364.
Brain. 2023.
PMID: 36200388
Free PMC article.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K, Eichl…
See abstract for full author list ➔
Küry S, et al.
Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.
Am J Hum Genet. 2017.
PMID: 29100089
Free PMC article.
Item in Clipboard
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO.
Oldridge M, et al.
Hum Mol Genet. 1997 Jan;6(1):137-43. doi: 10.1093/hmg/6.1.137.
Hum Mol Genet. 1997.
PMID: 9002682
Item in Clipboard
Structural changes in the heme proximal pocket induced by nitric oxide binding to soluble guanylate cyclase.
Zhao Y, Hoganson C, Babcock GT, Marletta MA.
Zhao Y, et al.
Biochemistry. 1998 Sep 8;37(36):12458-64. doi: 10.1021/bi9811563.
Biochemistry. 1998.
PMID: 9730818
Item in Clipboard
Cite
Cite