Lee BH - Search Results

1

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ. Weaver DD, et al. Among authors: lee bh. Am J Med Genet A. 2015 May;167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728400

2

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Rosti RO, Uyguner ZO, Nazarenko I, Bekerecioglu M, Cadilla CL, Ozgur H, Lee BH, Aggarwal AK, Pehlivan S, Desnick RJ. Rosti RO, et al. Among authors: lee bh. Clin Genet. 2015 Nov;88(5):489-493. doi: 10.1111/cge.12539. Epub 2014 Dec 11. Clin Genet. 2015. PMID: 25410422 Free PMC article.

3

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, Weaver DD, Desnick RJ. Lee BH, et al. J Hum Genet. 2015 Nov;60(11):717-22. doi: 10.1038/jhg.2015.103. Epub 2015 Aug 27. J Hum Genet. 2015. PMID: 26311541

4

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. Lee BH, et al. J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561. Epub 2017 Jun 29. J Med Genet. 2017. PMID: 28663233 Review.

5

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Heo SH, Kang E, Kim YM, Go H, Kim KY, Jung JY, Kang M, Kim GH, Kim JM, Choi IH, Choi JH, Jung SC, Desnick RJ, Yoo HW, Lee BH. Heo SH, et al. Among authors: lee bh. J Med Genet. 2017 Nov;54(11):771-780. doi: 10.1136/jmedgenet-2017-104704. Epub 2017 Aug 23. J Med Genet. 2017. PMID: 28835480 Free PMC article.

6

Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients.

Lee BH, Morice-Picard F, Boralevi F, Chen B, Desnick RJ. Lee BH, et al. J Hum Genet. 2018 Mar;63(3):257-261. doi: 10.1038/s10038-017-0375-x. Epub 2017 Dec 20. J Hum Genet. 2018. PMID: 29263414

7

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Yoon YH, Eun BL, Desnick RJ, Keum C, Lee BH. Seo GH, et al. Among authors: lee bh, lee y, lee h, lee j. Clin Genet. 2020 Dec;98(6):562-570. doi: 10.1111/cge.13848. Epub 2020 Sep 17. Clin Genet. 2020. PMID: 32901917 Free PMC article.

8

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.

Seo GH, Kim JH, Cho JH, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW. Seo GH, et al. Among authors: lee bh. Korean J Pediatr. 2016 Jan;59(1):16-23. doi: 10.3345/kjp.2016.59.1.16. Epub 2016 Jan 22. Korean J Pediatr. 2016. PMID: 26893599 Free PMC article.

9

Biochemical and molecular characterisation of neurological Wilson disease.

Seo GH, Kim YM, Oh SH, Chung SJ, Choi IH, Kim GH, Yum MS, Choi JH, Kim KM, Ko TS, Lee BH, Yoo HW. Seo GH, et al. Among authors: lee bh. J Med Genet. 2018 Sep;55(9):587-593. doi: 10.1136/jmedgenet-2017-105214. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618506

10

Clinical and molecular spectra of BRAF-associated RASopathy.

Lee Y, Choi Y, Seo GH, Kim GH, Choi IH, Keum C, Ko JM, Cheon CK, Jeon J, Choi JH, Yoo HW, Lee BH. Lee Y, et al. Among authors: lee bh. J Hum Genet. 2021 Apr;66(4):389-399. doi: 10.1038/s10038-020-00852-3. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040082

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

3,180 results

Search Page