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 |
2019 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Your search was processed without automatic term mapping because it retrieved zero results.
Page 1
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25.
Am J Med Genet A. 2024.
PMID: 37743782
All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. ...
All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patien …
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network; McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M.
Accogli A, et al.
Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005.
Am J Hum Genet. 2019.
PMID: 31585109
Free PMC article.
All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly c …
All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; …
Item in Clipboard
A hydrological-economic model for sustainable groundwater use in sparse-data drylands: Application to the Amtoudi Oasis in southern Morocco, northern Sahara.
Alcalá FJ, Martínez-Valderrama J, Robles-Marín P, Guerrera F, Martín-Martín M, Raffaelli G, de León JT, Asebriy L.
Alcalá FJ, et al.
Sci Total Environ. 2015 Dec 15;537:309-22. doi: 10.1016/j.scitotenv.2015.07.062. Epub 2015 Aug 15.
Sci Total Environ. 2015.
PMID: 26282765
Governing system variables were identified and put into action through System Dynamics (SD) modeling causal diagrams to program basic formulations into a model having two modules coupled by the nexus 'pumping': (1) the hydrological module represents the net groundwater balance ( …
Governing system variables were identified and put into action through System Dynamics (SD) modeling causal diagrams to program basic formul …
Item in Clipboard
Cite
Cite