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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 2
2007 1
2009 2
2010 3
2011 2
2012 2
2013 3
2014 2
2016 1
2019 3
2020 1
2021 1
2024 0

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23 results

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Page 1
Health Supervision for Children With Neurofibromatosis Type 1.
Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR; COUNCIL ON GENETICS; AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS. Miller DT, et al. Among authors: freedenberg d. Pediatrics. 2019 May;143(5):e20190660. doi: 10.1542/peds.2019-0660. Pediatrics. 2019. PMID: 31010905 Review.
A Newborn Screening Education Best Practices Framework: Development and Adoption.
Evans A, LeBlanc K, Bonhomme N, Shone SM, Gaviglio A, Freedenberg D, Penn J, Johnson C, Vogel B, Dolan SM, Goldenberg AJ. Evans A, et al. Among authors: freedenberg d. Int J Neonatal Screen. 2019 Jun 1;5(2):22. doi: 10.3390/ijns5020022. eCollection 2019 Jun. Int J Neonatal Screen. 2019. PMID: 33072981 Free PMC article. Review.
Health supervision for children with Marfan syndrome.
Tinkle BT, Saal HM; Committee on genetics. Tinkle BT, et al. Pediatrics. 2013 Oct;132(4):e1059-72. doi: 10.1542/peds.2013-2063. Epub 2013 Sep 30. Pediatrics. 2013. PMID: 24081994 Review.
The incidence of urea cycle disorders.
Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/. Summar ML, et al. Among authors: freedenberg d. Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18. Mol Genet Metab. 2013. PMID: 23972786 Free PMC article.
The association between newborn screening analytes and childhood autism in a Texas Medicaid population, 2010-2012.
Canfield MA, Langlois PH, Rutenberg GW, Mandell DJ, Hua F, Reilly B, Ruktanonchai DJ, Jackson JF, Hunt P, Freedenberg D, Lee R, Villanacci JF. Canfield MA, et al. Among authors: freedenberg d. Am J Med Genet B Neuropsychiatr Genet. 2019 Jul;180(5):291-304. doi: 10.1002/ajmg.b.32728. Epub 2019 Apr 24. Am J Med Genet B Neuropsychiatr Genet. 2019. PMID: 31016859
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. Liu P, et al. Among authors: freedenberg d. Cell. 2011 Sep 16;146(6):889-903. doi: 10.1016/j.cell.2011.07.042. Cell. 2011. PMID: 21925314 Free PMC article.
The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid population.
Langlois PH, Canfield MA, Rutenberg GW, Mandell DJ, Hua F, Reilly B, Ruktanonchai DJ, Jackson JF, Hunt P, Freedenberg D, Lee R, Villanacci JF. Langlois PH, et al. Among authors: freedenberg d. Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):331-340. doi: 10.1002/ajmg.b.32804. Epub 2020 Jul 13. Am J Med Genet B Neuropsychiatr Genet. 2020. PMID: 32657040
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Kwan A, et al. Among authors: freedenberg d. JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. JAMA. 2014. PMID: 25138334 Free PMC article.
23 results