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

187 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: bertola dr. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
Spondylocostal dysostosis associated with methylmalonic aciduria.
Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, Kim CA. Honjo RS, et al. Among authors: bertola dr. Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3. doi: 10.1089/gtmb.2008.0069. Genet Test Mol Biomarkers. 2009. PMID: 19371216
Angiokeratoma: a cutaneous marker of Fabry's disease.
Albano LM, Rivitti C, Bertola DR, Honjo RS, Kelmann SV, Giugliani R, Kim CA. Albano LM, et al. Among authors: bertola dr. Clin Exp Dermatol. 2010 Jul;35(5):505-8. doi: 10.1111/j.1365-2230.2009.03721.x. Epub 2009 Oct 19. Clin Exp Dermatol. 2010. PMID: 19843083
Dental evaluation of Kabuki syndrome patients.
Teixeira CS, Silva CR, Honjo RS, Bertola DR, Albano LM, Kim CA. Teixeira CS, et al. Among authors: bertola dr. Cleft Palate Craniofac J. 2009 Nov;46(6):668-73. doi: 10.1597/08-077.1. Epub 2009 May 17. Cleft Palate Craniofac J. 2009. PMID: 19860501
187 results