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 |
---|---|
2014 | 1 |
2015 | 2 |
2016 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Tessadori-van Haaften neurodevelopmental syndrome 2"
Page 1
Behavioral and cognitive functioning in individuals with Cantu syndrome.
Am J Med Genet A. 2021 Aug;185(8):2434-2444. doi: 10.1002/ajmg.a.62348. Epub 2021 May 30.
Am J Med Genet A. 2021.
PMID: 34056838
Free PMC article.
Cantu syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sensitive potassium (K(ATP) ) channels. ...To assess the cognitive profile, social functioning, and psychiatric symptoms in a large group of CS …
Cantu syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore-forming subunits of ATP-sens …
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.
Ockeloen CW, et al.
Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26.
Eur J Hum Genet. 2015.
PMID: 25424714
Free PMC article.
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. ...On the basis of our observations, we recommend cardiac assessment in chi …
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specifi …
Item in Clipboard
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G.
Kroes HY, et al.
Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29.
Eur J Hum Genet. 2016.
PMID: 25920555
Free PMC article.
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. ...Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was re …
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. ...Furthermore, we re …
Item in Clipboard
Cite
Cite