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Hearing from parents: the impact of receiving the diagnosis of Williams syndrome in their child.
Am J Med Genet A. 2013 Mar;161A(3):534-41. doi: 10.1002/ajmg.a.35789. Epub 2013 Feb 7.
Am J Med Genet A. 2013.
PMID: 23401422
Multisystem study of 20 older adults with Williams syndrome.
Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR.
Cherniske EM, et al.
Am J Med Genet A. 2004 Dec 15;131(3):255-64. doi: 10.1002/ajmg.a.30400.
Am J Med Genet A. 2004.
PMID: 15534874
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Early puberty in Williams syndrome.
Cherniske EM, Sadler LS, Schwartz D, Carpenter TO, Pober BR.
Cherniske EM, et al.
Clin Dysmorphol. 1999 Apr;8(2):117-21.
Clin Dysmorphol. 1999.
PMID: 10319200
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Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.
Brown CA, et al.
Am J Med Genet. 2001 Sep 1;102(4):359-67. doi: 10.1002/ajmg.1463.
Am J Med Genet. 2001.
PMID: 11503164
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46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.
Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR.
Hisama FM, et al. Among authors: cherniske em.
Am J Med Genet. 2001 Jan 15;98(2):121-4. doi: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4.
Am J Med Genet. 2001.
PMID: 11223846
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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR.
Jonsson JJ, et al. Among authors: cherniske em.
J Med Genet. 1998 Apr;35(4):273-8. doi: 10.1136/jmg.35.4.273.
J Med Genet. 1998.
PMID: 9598718
Free PMC article.
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Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE.
Finegold DN, et al. Among authors: cherniske em.
Hum Mol Genet. 2001 May 15;10(11):1185-9. doi: 10.1093/hmg/10.11.1185.
Hum Mol Genet. 2001.
PMID: 11371511
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