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Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Am J Med Genet A. 2021 Jul;185(7):2136-2149. doi: 10.1002/ajmg.a.62194. Epub 2021 Mar 30.
Am J Med Genet A. 2021.
PMID: 33783941
Genetic skin disorders: The value of a multidisciplinary clinic.
Parker JC, Rangu S, Grand KL, Bhoj EJ, Castelo-Soccio L, Sheppard SE.
Parker JC, et al. Among authors: grand kl.
Am J Med Genet A. 2021 Apr;185(4):1159-1167. doi: 10.1002/ajmg.a.62095. Epub 2021 Jan 27.
Am J Med Genet A. 2021.
PMID: 33502802
Free PMC article.
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Segmental congenital hemangiomas: Three cases of a rare entity.
Smith RJ, Metry D, Deardorff MA, Heller E, Grand KL, Iacobas I, Rubin AI, Phung TL, Lopez-Terrada D, Steicher J, Cahill AM, Low D, Treat JR.
Smith RJ, et al. Among authors: grand kl.
Pediatr Dermatol. 2020 May;37(3):548-553. doi: 10.1111/pde.14143. Epub 2020 Apr 7.
Pediatr Dermatol. 2020.
PMID: 32255239
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WDR26-Related Intellectual Disability.
Skraban CM, Grand KL, Deardorff MA.
Skraban CM, et al. Among authors: grand kl.
2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2019 Apr 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 31021590
Free Books & Documents.
Review.
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Beckwith-Wiedemann syndrome in diverse populations.
Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM.
Duffy KA, et al. Among authors: grand kl.
Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4.
Am J Med Genet A. 2019.
PMID: 30719840
Free PMC article.
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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A.
Bhoj EJ, et al. Among authors: grand kl.
Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22.
Eur J Med Genet. 2019.
PMID: 30472488
Free PMC article.
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Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.
Duffy KA, Grand KL, Zelley K, Kalish JM.
Duffy KA, et al. Among authors: grand kl.
J Genet Couns. 2018 Aug;27(4):844-853. doi: 10.1007/s10897-017-0182-8. Epub 2017 Dec 4.
J Genet Couns. 2018.
PMID: 29204812
Free PMC article.
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