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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: van der kaay dcm. J Med Genet. 2024 May 14:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Free article. Review.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits DJ, Schot R, Popescu CA, Dias KR, Ades L, Briere LC, Sweetser DA, Kushima I, Aleksic B, Khan S, Karageorgou V, Ordonez N, Sleutels FJGT, van der Kaay DCM, Van Mol C, Van Esch H, Bertoli-Avella AM, Roscioli T, Mancini GMS. Smits DJ, et al. Among authors: van der kaay dcm. Hum Genet. 2023 Jul;142(7):949-964. doi: 10.1007/s00439-023-02569-7. Epub 2023 May 17. Hum Genet. 2023. PMID: 37198333 Free PMC article.
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
Bindels-de Heus KGCB, Hagenaar DA, Mous SE, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, Moll HA, de Wit MY. Bindels-de Heus KGCB, et al. Among authors: van der kaay dcm. Eur J Pediatr. 2024 Jan;183(1):103-111. doi: 10.1007/s00431-023-05231-6. Epub 2023 Oct 13. Eur J Pediatr. 2024. PMID: 37831301 Free PMC article.
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
Bindels-de Heus KGCB, Hagenaar DA, Dekker I, van der Kaay DCM, Kerkhof GF, Encore Expertise Center For As, Elgersma Y, de Wit MY, Mous SE, Moll HA. Bindels-de Heus KGCB, et al. Among authors: van der kaay dcm. J Clin Med. 2023 Sep 15;12(18):5981. doi: 10.3390/jcm12185981. J Clin Med. 2023. PMID: 37762921 Free PMC article.
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Lauffer P, Boudin E, van der Kaay DCM, Koene S, van Haeringen A, van Tellingen V, Van Hul W, Prickett TCR, Mortier G, Espiner EA, van Duyvenvoorde HA. Lauffer P, et al. Among authors: van der kaay dcm. J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1. J Endocr Soc. 2022. PMID: 35233476 Free PMC article.
Ways to Improve the Diagnosis of Growth Hormone Deficiency.
Wit JM, Vliegenthart J, Joustra SD, de Bruin C, Bakker B, van der Kaay DCM, Bocca G. Wit JM, et al. Among authors: van der kaay dcm. Horm Res Paediatr. 2022;95(1):93-96. doi: 10.1159/000522541. Epub 2022 Feb 10. Horm Res Paediatr. 2022. PMID: 35144257 Free article. No abstract available.
40 results