Lang SH - Search Results

1

EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.

Forghani I, Lang SH, Rodier MJ, Bivona SA; Undiagnosed Diseases Network; Morales AA, Zuchner S, Bademci G, Tekin M. Forghani I, et al. Among authors: lang sh. Am J Med Genet A. 2024 Jun;194(6):e63556. doi: 10.1002/ajmg.a.63556. Epub 2024 Feb 13. Am J Med Genet A. 2024. PMID: 38348595

2

A novel pathogenic variant at the C-terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability.

Lang SH, Gallo RA, Forghani I. Lang SH, et al. Am J Med Genet A. 2022 Jun;188(6):1885-1889. doi: 10.1002/ajmg.a.62712. Epub 2022 Mar 3. Am J Med Genet A. 2022. PMID: 35243755

3

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.

Lang SH, Camponeschi F, Joya E, Borjas-Mendoza P, Tekin M, Thorson W. Lang SH, et al. Genes (Basel). 2022 Nov 6;13(11):2044. doi: 10.3390/genes13112044. Genes (Basel). 2022. PMID: 36360281 Free PMC article. Review.

4

Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.

Bargagna B, Staderini T, Lang SH, Banci L, Camponeschi F. Bargagna B, et al. Among authors: lang sh. Int J Mol Sci. 2024 Sep 28;25(19):10466. doi: 10.3390/ijms251910466. Int J Mol Sci. 2024. PMID: 39408793 Free PMC article.

5

Utilization of Online Resources by Patients in an Ophthalmic Emergency Department.

Hwang JC, Yannuzzi NA, Cavuoto KM, Ansari Z, Patel NA, Goodman CF, Lang S, Sridhar J. Hwang JC, et al. J Acad Ophthalmol (2017). 2021 Dec 11;13(2):e247-e255. doi: 10.1055/s-0040-1722310. eCollection 2021 Jul. J Acad Ophthalmol (2017). 2021. PMID: 37388833 Free PMC article.

6

Effects of Mitomycin-C and 5-Fluorouracil on Ocular Adnexal Sebaceous Carcinoma Cells.

Gallo RA, Lang SH, Gomez A, Sabater AL, Tse DT, Pelaez D, Rong AJ. Gallo RA, et al. Among authors: lang sh. Am J Ophthalmol. 2022 Aug;240:14-22. doi: 10.1016/j.ajo.2021.12.016. Epub 2022 Jan 4. Am J Ophthalmol. 2022. PMID: 34995523 Free PMC article.

7

Derivation and Characterization of Murine and Amphibian Müller Glia Cell Lines.

Gallo RA, Qureshi F, Strong TA, Lang SH, Pino KA, Dvoriantchikova G, Pelaez D. Gallo RA, et al. Among authors: lang sh. Transl Vis Sci Technol. 2022 Apr 1;11(4):4. doi: 10.1167/tvst.11.4.4. Transl Vis Sci Technol. 2022. PMID: 35377941 Free PMC article.

8

Study of electronic and optical properties of CdI₂ modulated by electric field: a first-principles study.

Bai X, Jiang Q, Song P, Jia ZP, Lu S, Gao ZK, Lang SH, Cui H, Feng R, Liang ZY, Kang Q, Yuan HK. Bai X, et al. Among authors: lang sh. Opt Express. 2023 Sep 11;31(19):31504-31521. Opt Express. 2023. PMID: 37710667 Free article.

9

Real-world outcomes for first line next-generation hormonal agents in metastatic prostate cancer: a systematic review.

Hettle R, Mihai A, Lang SH, Tatman S, Swift SL. Hettle R, et al. Among authors: lang sh. Future Oncol. 2023 Nov;19(36):2425-2443. doi: 10.2217/fon-2023-0377. Epub 2023 Sep 8. Future Oncol. 2023. PMID: 37681288 Review.

10

Transcatheter aortic valve implantation versus surgical aortic valve replacement in patients with severe aortic stenosis: a systematic review and meta-analysis.

Swift SL, Puehler T, Misso K, Lang SH, Forbes C, Kleijnen J, Danner M, Kuhn C, Haneya A, Seoudy H, Cremer J, Frey N, Lutter G, Wolff R, Scheibler F, Wehkamp K, Frank D. Swift SL, et al. Among authors: lang sh. BMJ Open. 2021 Dec 6;11(12):e054222. doi: 10.1136/bmjopen-2021-054222. BMJ Open. 2021. PMID: 34873012 Free PMC article.

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