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38 results

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Page 1
Autistic Disorder: A 20 Year Chronicle.
Skinner C, Pauly R, Skinner SA, Schroer RJ, Simensen RJ, Taylor HA, Friez MJ, DuPont BR, Stevenson RE. Skinner C, et al. Among authors: schroer rj. J Autism Dev Disord. 2021 Feb;51(2):677-684. doi: 10.1007/s10803-020-04568-3. J Autism Dev Disord. 2021. PMID: 32592095
Autism and macrocephaly.
Stevenson RE, Schroer RJ, Skinner C, Fender D, Simensen RJ. Stevenson RE, et al. Among authors: schroer rj. Lancet. 1997 Jun 14;349(9067):1744-5. doi: 10.1016/S0140-6736(05)62956-X. Lancet. 1997. PMID: 9193390 No abstract available.
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions.
Monnens Y, Theodoropoulou A, Rosier K, Bhalla K, Mahy A, Vanhoutte R, Meulemans S, Cavani E, Antanasijevic A, Lemmens I, Lee JA, Spellicy CJ, Schroer RJ, Maselli RA, Laverty CG, Agostinis P, Pagliarini DJ, Verhelst S, Marcaida MJ, Rochtus A, Dal Peraro M, Creemers JW. Monnens Y, et al. Among authors: schroer rj. JCI Insight. 2024 Sep 10;9(17):e179276. doi: 10.1172/jci.insight.179276. JCI Insight. 2024. PMID: 39078710 Free PMC article.
Natural history of Christianson syndrome.
Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Schroer RJ, et al. Am J Med Genet A. 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093. Am J Med Genet A. 2010. PMID: 20949524 Free PMC article.
Genetic syndromes among individuals with mental retardation.
Stevenson RE, Procopio-Allen AM, Schroer RJ, Collins JS. Stevenson RE, et al. Among authors: schroer rj. Am J Med Genet A. 2003 Nov 15;123A(1):29-32. doi: 10.1002/ajmg.a.20492. Am J Med Genet A. 2003. PMID: 14556243
Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: schroer rj. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK. Bhalla K, et al. Among authors: schroer rj. Am J Hum Genet. 2008 Dec;83(6):703-13. doi: 10.1016/j.ajhg.2008.10.020. Epub 2008 Nov 13. Am J Hum Genet. 2008. PMID: 19012874 Free PMC article.
38 results