Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Hildebrandt CC, Patel N, Graham JM Jr, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE; University of Washington Center for Mendelian Genomics; Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE. Hildebrandt CC, et al. Among authors: grand kl. 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.
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
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.
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.
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.