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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17.
Genet Med. 2016.
PMID: 26986877
Free article.
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.
Chen CA, et al. Among authors: schoonveld c.
Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.
Genet Med. 2017.
PMID: 28777376
Free article.
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Investigation of NRXN1 deletions: clinical and molecular characterization.
Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG.
Dabell MP, et al. Among authors: schoonveld c.
Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12.
Am J Med Genet A. 2013.
PMID: 23495017
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The unique association of iris heterochromia with Hermansky-Pudlak syndrome.
Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG.
Radke P, et al. Among authors: schoonveld c.
J AAPOS. 2013 Oct;17(5):542-4. doi: 10.1016/j.jaapos.2013.05.012. Epub 2013 Sep 17.
J AAPOS. 2013.
PMID: 24054038
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Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG.
Ringeisen AL, et al. Among authors: schoonveld c.
J AAPOS. 2013 Jun;17(3):334-6. doi: 10.1016/j.jaapos.2013.02.002. Epub 2013 Apr 19.
J AAPOS. 2013.
PMID: 23607980
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Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.
Lee S, Schimmenti LA, King RA, Brilliant M, Anderson JL, Schoonveld C, Summers CG.
Lee S, et al. Among authors: schoonveld c.
J AAPOS. 2015 Dec;19(6):562-4. doi: 10.1016/j.jaapos.2015.06.009.
J AAPOS. 2015.
PMID: 26691042
Free PMC article.
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Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession.
Chen A, Veach PM, Schoonveld C, Zierhut H.
Chen A, et al. Among authors: schoonveld c.
J Genet Couns. 2017 Oct;26(5):948-962. doi: 10.1007/s10897-017-0071-1. Epub 2017 Mar 14.
J Genet Couns. 2017.
PMID: 28289854
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Prenatal diagnostic conundrum involving a novel ATP7A duplication.
Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG.
Schoonveld C, et al.
Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14.
Clin Genet. 2013.
PMID: 23151012
Free PMC article.
No abstract available.
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