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Reevaluation of Russell-Silver syndrome.
Saal HM, Pagon RA, Pepin MG. Saal HM, et al. J Pediatr. 1985 Nov;107(5):733-7. doi: 10.1016/s0022-3476(85)80402-9. J Pediatr. 1985. PMID: 2414426
Retrospective Study of Obesity in Children with Down Syndrome.
Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM. Basil JS, et al. Among authors: saal hm. J Pediatr. 2016 Jun;173:143-8. doi: 10.1016/j.jpeds.2016.02.046. Epub 2016 Mar 14. J Pediatr. 2016. PMID: 26987801
Small deletions of the short arm of the Y chromosome in 46,XY females.
Disteche CM, Casanova M, Saal H, Friedman C, Sybert V, Graham J, Thuline H, Page DC, Fellous M. Disteche CM, et al. Proc Natl Acad Sci U S A. 1986 Oct;83(20):7841-4. doi: 10.1073/pnas.83.20.7841. Proc Natl Acad Sci U S A. 1986. PMID: 3464001 Free PMC article.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study; Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: saal hm. Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. Eur J Hum Genet. 2016. PMID: 26306646 Free PMC article.
117 results