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Quoted phrase not found in phrase index: "Tessadori-van Haaften neurodevelopmental syndrome 2"
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Behavioral and cognitive functioning in individuals with Cantu syndrome.
Roessler HI, van der Heuvel LM, Shields K, Guilliams KP, Knoers NVAM, van Haaften G, Grange DK, van Haelst MM. Roessler HI, et al. 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 …
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 …