Braverman N - Search Results

1

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).

McBride KL, Berry SA, Braverman N; ACMG Therapeutics Committee. McBride KL, et al. Among authors: braverman n. Genet Med. 2020 Nov;22(11):1735-1742. doi: 10.1038/s41436-020-0909-z. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741966 Free article.

2

Diagnostic guidelines for newborns who screen positive in newborn screening.

Kronn D, Mofidi S, Braverman N, Harris K; Diagnostics Guidelines Work Group. Kronn D, et al. Among authors: braverman n. Genet Med. 2010 Dec;12(12 Suppl):S251-5. doi: 10.1097/GIM.0b013e3181fe5d8b. Genet Med. 2010. PMID: 21150371 Free article.

3

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N. Matos-Miranda C, et al. Among authors: braverman n. Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470839 Free article.

4

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

De Biase I, Tortorelli S, Kratz L, J Steinberg S, Cusmano-Ozog K, Braverman N; ACMG Laboratory Quality Assurance Committee. De Biase I, et al. Among authors: braverman n. Genet Med. 2020 Apr;22(4):686-697. doi: 10.1038/s41436-019-0713-9. Epub 2019 Dec 11. Genet Med. 2020. PMID: 31822849 Free article.

5

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. Wangler MF, et al. Among authors: braverman n. Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419819 Free PMC article.

6

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N. Nimmo G, et al. Among authors: braverman n. Am J Med Genet A. 2010 Jul;152A(7):1812-7. doi: 10.1002/ajmg.a.33489. Am J Med Genet A. 2010. PMID: 20583171

7

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB. Duker AL, et al. Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26. Am J Med Genet A. 2016. PMID: 26408048 No abstract available.

8

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB. Duker AL, et al. Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12. Am J Med Genet A. 2017. PMID: 27616591

9

Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome.

Alkhunaizi E, Braverman N. Alkhunaizi E, et al. Among authors: braverman n. Am J Med Genet A. 2019 Jan;179(1):130-133. doi: 10.1002/ajmg.a.60691. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569551 No abstract available.

10

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, Bober MB. Duker AL, et al. Among authors: braverman n. Am J Med Genet A. 2020 Mar;182(3):579-583. doi: 10.1002/ajmg.a.61413. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769196 No abstract available.

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

135 results

Search Page