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Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269.
medRxiv. 2023.
PMID: 37808847
Free PMC article.
Updated.
Preprint.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM.
Ansari M, et al. Among authors: denhoff er.
HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30.
HGG Adv. 2024.
PMID: 38297832
Free PMC article.
Item in Clipboard
Incidence of Hospital-Acquired Conditions During Pediatric Clinical Research Inpatient Hospitalizations: A Matched Cohort Study.
Milliren CE, Denhoff ER, Hahn PD, Ozonoff A.
Milliren CE, et al. Among authors: denhoff er.
J Patient Saf. 2023 Oct 1;19(7):469-477. doi: 10.1097/PTS.0000000000001159.
J Patient Saf. 2023.
PMID: 37678187
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A Pilot Study of Inspiratory Muscle Training to Improve Exercise Capacity in Patients with Fontan Physiology.
Wu FM, Opotowsky AR, Denhoff ER, Gongwer R, Gurvitz MZ, Landzberg MJ, Shafer KM, Valente AM, Uluer AZ, Rhodes J.
Wu FM, et al. Among authors: denhoff er.
Semin Thorac Cardiovasc Surg. 2018 Winter;30(4):462-469. doi: 10.1053/j.semtcvs.2018.07.014. Epub 2018 Jul 29.
Semin Thorac Cardiovasc Surg. 2018.
PMID: 30063966
Clinical Trial.
Item in Clipboard
Factors Associated with Clinical Research Recruitment in a Pediatric Academic Medical Center--A Web-Based Survey.
Denhoff ER, Milliren CE, de Ferranti SD, Steltz SK, Osganian SK.
Denhoff ER, et al.
PLoS One. 2015 Oct 16;10(10):e0140768. doi: 10.1371/journal.pone.0140768. eCollection 2015.
PLoS One. 2015.
PMID: 26473602
Free PMC article.
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Providing food to treat adolescents at risk for cardiovascular disease.
de Ferranti SD, Milliren CE, Denhoff ER, Quinn N, Osganian SK, Feldman HA, Ebbeling CB, Ludwig DS.
de Ferranti SD, et al. Among authors: denhoff er.
Obesity (Silver Spring). 2015 Oct;23(10):2109-17. doi: 10.1002/oby.21246. Epub 2015 Sep 4.
Obesity (Silver Spring). 2015.
PMID: 26337820
Free PMC article.
Clinical Trial.
Item in Clipboard
Using high-dose omega-3 fatty acid supplements to lower triglyceride levels in 10- to 19-year-olds.
de Ferranti SD, Milliren CE, Denhoff ER, Steltz SK, Selamet Tierney ES, Feldman HA, Osganian SK.
de Ferranti SD, et al. Among authors: denhoff er.
Clin Pediatr (Phila). 2014 May;53(5):428-38. doi: 10.1177/0009922814528032.
Clin Pediatr (Phila). 2014.
PMID: 24707021
Free PMC article.
Clinical Trial.
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