Weik L - Search Results

1

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Moreno-De-Luca D; SGENE Consortium; Mulle JG; Simons Simplex Collection Genetics Consortium; Kaminsky EB, Sanders SJ; GeneSTAR; Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. Moreno-De-Luca D, et al. Among authors: weik l. Am J Hum Genet. 2010 Nov 12;87(5):618-30. doi: 10.1016/j.ajhg.2010.10.004. Epub 2010 Nov 4. Am J Hum Genet. 2010. PMID: 21055719 Free PMC article.

2

A Rare Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST Gene, and Duplication 3q25.33-q29 in a Female with der(X)t(X;3)(q13.2;q25.33).

Peterson JF, Basel DG, Bick DP, Chirempes B, Lorier RB, Zemlicka N, Grignon JW Jr, Weik L, Kappes U. Peterson JF, et al. Among authors: weik l. J Pediatr Genet. 2018 Mar;7(1):23-28. doi: 10.1055/s-0037-1604448. Epub 2017 Jul 26. J Pediatr Genet. 2018. PMID: 29441218 Free PMC article.

3

Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence.

Brar R, Basel DG, Bick DP, Weik L, vanTuinen P, Peterson JF. Brar R, et al. Among authors: weik l. J Assoc Genet Technol. 2017;43(2):56-58. J Assoc Genet Technol. 2017. PMID: 28511170

4

Novel Genetic Diagnoses in Septo-Optic Dysplasia.

Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV. Reis LM, et al. Among authors: weik l. Genes (Basel). 2022 Jun 28;13(7):1165. doi: 10.3390/genes13071165. Genes (Basel). 2022. PMID: 35885948 Free PMC article.

5

Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.

Zwifelhofer NMJ, Bercovitz RS, Weik LA, Moroi A, LaRose S, Newman PJ, Newman DK. Zwifelhofer NMJ, et al. Among authors: weik la. J Thromb Haemost. 2019 Feb;17(2):295-305. doi: 10.1111/jth.14357. Epub 2019 Jan 22. J Thromb Haemost. 2019. PMID: 30549403 Free PMC article.

6

Understanding inherent influencing factors to digital health adoption in general practices through a mixed-methods analysis.

Weik L, Fehring L, Mortsiefer A, Meister S. Weik L, et al. NPJ Digit Med. 2024 Feb 27;7(1):47. doi: 10.1038/s41746-024-01049-0. NPJ Digit Med. 2024. PMID: 38413767 Free PMC article.

7

Big 5 Personality Traits and Individual- and Practice-Related Characteristics as Influencing Factors of Digital Maturity in General Practices: Quantitative Web-Based Survey Study.

Weik L, Fehring L, Mortsiefer A, Meister S. Weik L, et al. J Med Internet Res. 2024 Jan 22;26:e52085. doi: 10.2196/52085. J Med Internet Res. 2024. PMID: 38252468 Free PMC article. Review.

8

Genetic counseling practice analysis.

Hampel H, Grubs RE, Walton CS, Nguyen E, Breidenbach DH, Nettles S; American Board of Genetic Counseling 2008 Practice Analysis Advisory Committee; Callanan N, Corliss M, Fox S, Hiraki S, Ku L, Neufeld-Kaiser W, Riley B, Taylor J, Weik L. Hampel H, et al. Among authors: weik l. J Genet Couns. 2009 Jun;18(3):205-16. doi: 10.1007/s10897-009-9216-1. Epub 2009 Mar 11. J Genet Couns. 2009. PMID: 19277852

9

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

Muenke M, Gurrieri F, Bay C, Yi DH, Collins AL, Johnson VP, Hennekam RC, Schaefer GB, Weik L, Lubinsky MS, et al. Muenke M, et al. Among authors: weik l. Proc Natl Acad Sci U S A. 1994 Aug 16;91(17):8102-6. doi: 10.1073/pnas.91.17.8102. Proc Natl Acad Sci U S A. 1994. PMID: 8058764 Free PMC article.

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