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Development of an international standard set of patient-centred outcome measures for overall paediatric health: a consensus process.
Algurén B, Ramirez JP, Salt M, Sillett N, Myers SN, Alvarez-Cote A, Butcher NJ, Caneo LF, Cespedes JA, Chaplin JE, Ng KC, García-García JJ, Hazelzet JA, Klassen AF, Turquetto ALR, Mew EJ, Morris M, Offringa M, O'Meara M, Papp JM, Rodrigo C, Switaj TL, Valencia Mayer C, Jenkins KJ. Algurén B, et al. Among authors: papp jm. Arch Dis Child. 2021 Sep;106(9):868-876. doi: 10.1136/archdischild-2020-320345. Epub 2020 Dec 11. Arch Dis Child. 2021. PMID: 33310707 Free PMC article.
A Comparative Study of the Rapid (IKr) and Slow (IKs) Delayed Rectifier Potassium Currents in Undiseased Human, Dog, Rabbit, and Guinea Pig Cardiac Ventricular Preparations.
Ágoston M, Kohajda Z, Virág L, Baláti B, Nagy N, Lengyel C, Bitay M, Bogáts G, Vereckei A, Papp JG, Varró A, Jost N. Ágoston M, et al. Among authors: papp jg. Pharmaceuticals (Basel). 2024 Aug 20;17(8):1091. doi: 10.3390/ph17081091. Pharmaceuticals (Basel). 2024. PMID: 39204196 Free PMC article.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H; Undiagnosed Diseases Network; Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Huang Y, et al. Genet Med. 2024 Nov;26(11):101218. doi: 10.1016/j.gim.2024.101218. Epub 2024 Jul 19. Genet Med. 2024. PMID: 39036895 Free PMC article.
758 results