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Year Number of Results
2008 1
2011 1
2012 3
2013 1
2014 3
2017 1
2018 1
2021 1
2022 3
2023 4
2024 1

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17 results

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Page 1
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL Jr, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Broly M, Küry S, Nizon M, Rasool IG, Zahoor MY, Kraus C, Reis A, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Mignot C, Keren B, Courtin T, Agrawal PB, Beggs AH, Yu TW. Harris HK, et al. Among authors: cohen ll. Genet Med. 2021 Jun;23(6):1028-1040. doi: 10.1038/s41436-021-01114-z. Epub 2021 Mar 3. Genet Med. 2021. PMID: 33658631 Free PMC article.
Newborn screening for Duchenne muscular dystrophy: A two-year pilot study.
Tavakoli NP, Gruber D, Armstrong N, Chung WK, Maloney B, Park S, Wynn J, Koval-Burt C, Verdade L, Tegay DH, Cohen LL, Shapiro N, Kennedy A, Noritz G, Ciafaloni E, Weinberger B, Ellington M Jr, Schleien C, Spinazzola R, Sood S, Brower A, Lloyd-Puryear M, Caggana M; Duchenne Muscular Dystrophy Pilot Study Group. Tavakoli NP, et al. Among authors: cohen ll. Ann Clin Transl Neurol. 2023 Aug;10(8):1383-1396. doi: 10.1002/acn3.51829. Epub 2023 Jun 23. Ann Clin Transl Neurol. 2023. PMID: 37350320 Free PMC article.
Biogenic Guanine Crystals Are Solid Solutions of Guanine and Other Purine Metabolites.
Pinsk N, Wagner A, Cohen L, Smalley CJH, Hughes CE, Zhang G, Pavan MJ, Casati N, Jantschke A, Goobes G, Harris KDM, Palmer BA. Pinsk N, et al. Among authors: cohen l. J Am Chem Soc. 2022 Mar 23;144(11):5180-5189. doi: 10.1021/jacs.2c00724. Epub 2022 Mar 7. J Am Chem Soc. 2022. PMID: 35255213 Free PMC article.
Psychological stress associated with cardiogenetic conditions.
Hidayatallah N, Silverstein LB, Stolerman M, McDonald T, Walsh CA, Paljevic E, Cohen LL, Marion RW, Wasserman D, Hreyo S, Dolan SM. Hidayatallah N, et al. Among authors: cohen ll. Per Med. 2014 Sep 1;11(7):631-640. doi: 10.2217/pme.14.50. Per Med. 2014. PMID: 25431604 Free PMC article.
Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.
Wynn J, Tavakoli NP, Armstrong N, Gomez J, Koval C, Lai C, Tang S, Quevedo Prince A, Quevedo Y, Rufino K, Palacio Morales L, Pena A, Grossman S, Monfiletto M, Ruda E, Jimenez V, Verdade L, Jones A, Barriga MG, Karan N, Puma A, Sarker S, Chin S, Duarte K, Tegay DH, Bacchus I, Julooru R, Maloney B, Park S, Saami AM, Cohen L, Shapiro N, Caggana M, Chung WK, Gruber D. Wynn J, et al. Among authors: cohen l. Int J Neonatal Screen. 2022 Mar 22;8(2):23. doi: 10.3390/ijns8020023. Int J Neonatal Screen. 2022. PMID: 35466194 Free PMC article.
17 results