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31 results

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Page 1
Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Li J, Yang W, Wang YJ, Ma C, Curry CJ, McGoldrick D, Nickerson DA, Chong JX, Blue EE, Mullikin JC, Reefhuis J, Nembhard WN, Romitti PA, Werler MM, Browne ML, Olshan AF, Finnell RH, Feldkamp ML, Pangilinan F, Almli LM, Bamshad MJ, Brody LC, Jenkins MM, Shaw GM; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics; National Birth Defects Prevention Study. Li J, et al. Am J Med Genet A. 2022 Aug;188(8):2376-2388. doi: 10.1002/ajmg.a.62874. Epub 2022 Jun 18. Am J Med Genet A. 2022. PMID: 35716026 Free PMC article.
Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study.
Politis MD, Bermejo-Sánchez E, Canfield MA, Contiero P, Cragan JD, Dastgiri S, de Walle HEK, Feldkamp ML, Nance A, Groisman B, Gatt M, Benavides-Lara A, Hurtado-Villa P, Kallén K, Landau D, Lelong N, Lopez-Camelo J, Martinez L, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Šípek A, Szabova E, Wertelecki W, Zarante I, Bakker MK, Kancherla V, Mastroiacovo P, Nembhard WN; International Clearinghouse for Birth Defects Surveillance and Research. Politis MD, et al. Ann Epidemiol. 2021 Apr;56:61-69.e3. doi: 10.1016/j.annepidem.2020.11.007. Epub 2020 Nov 27. Ann Epidemiol. 2021. PMID: 33253899 Free PMC article.
Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study.
Heinke D, Isenburg JL, Stallings EB, Short TD, Le M, Fisher S, Shan X, Kirby RS, Nguyen HH, Nestoridi E, Nembhard WN, Romitti PA, Salemi JL, Lupo PJ; National Birth Defects Prevention Network. Heinke D, et al. Birth Defects Res. 2021 Jan 15;113(2):189-202. doi: 10.1002/bdr2.1854. Epub 2020 Dec 21. Birth Defects Res. 2021. PMID: 33348463 Free PMC article.
Drug screening during pregnancy: Urine dip cups measure up.
Kroska EB, Meller EW, Doyle R, Coker JL, Knight BT, Ray-Griffith SL, Nembhard WN, Stowe ZN. Kroska EB, et al. Drug Alcohol Depend. 2019 Nov 1;204:107461. doi: 10.1016/j.drugalcdep.2019.04.032. Epub 2019 Aug 30. Drug Alcohol Depend. 2019. PMID: 31521952
The role of genetic variation in DGKK on moderate and severe hypospadias.
Richard MA, Sok P, Canon S, Brown AL, Peckham-Gregory EC, Nembhard WN, Carmichael SL, Ehli EA, Kallsen NA, Peyton SA, Davies GE, Patel A, Zamilpa I, Wyatt RA, Hobbs CA, Scheurer ME, Lupo PJ. Richard MA, et al. Birth Defects Res. 2019 Aug 1;111(13):932-937. doi: 10.1002/bdr2.1522. Epub 2019 May 18. Birth Defects Res. 2019. PMID: 31102501 Free PMC article.
31 results