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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: drazba k. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572 Free PMC article.
Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
Albizua I, Charen K, Shubeck L, Talboy A, Berry-Kravis E, Kaufmann WE, Stallworth JL, Drazba KT, Erickson CA, Sweeney JA, Tartaglia N, Warren SF, Hagerman R, Sherman SL, Warren ST, Jin P, Allen EG. Albizua I, et al. Among authors: drazba kt. Mol Genet Genomic Med. 2022 Aug;10(8):e2001. doi: 10.1002/mgg3.2001. Epub 2022 Jul 18. Mol Genet Genomic Med. 2022. PMID: 35852003 Free PMC article.
Angelman syndrome with a 15q11q13 deletion in a mother and daughter.
Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE. Bell S, et al. Among authors: drazba kt. Clin Dysmorphol. 2022 Apr 1;31(2):91-93. doi: 10.1097/MCD.0000000000000399. Clin Dysmorphol. 2022. PMID: 34775449 No abstract available.
Association between breakfast frequency and physical activity and sedentary time: a cross-sectional study in children from 12 countries.
Zakrzewski-Fruer JK, Gillison FB, Katzmarzyk PT, Mire EF, Broyles ST, Champagne CM, Chaput JP, Denstel KD, Fogelholm M, Hu G, Lambert EV, Maher C, Maia J, Olds T, Onywera V, Sarmiento OL, Tremblay MS, Tudor-Locke C, Standage M; ISCOLE Research Group. Zakrzewski-Fruer JK, et al. BMC Public Health. 2019 Feb 21;19(1):222. doi: 10.1186/s12889-019-6542-6. BMC Public Health. 2019. PMID: 30791951 Free PMC article.
14 results