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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2015 2
2016 3
2017 3
2018 5
2019 3
2020 6
2021 5
2022 6
2023 3
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

35 results

Results by year

Filters applied: . Clear all
Page 1
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: gursoy s. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.
Kırkgöz T, Özkan B, Hazan F, Acar S, Nalbantoğlu Ö, Özkaya B, Kulalı MA, Gürsoy S, Ikegawa S, Guo L. Kırkgöz T, et al. Among authors: gursoy s. Front Genet. 2022 Jun 24;13:938814. doi: 10.3389/fgene.2022.938814. eCollection 2022. Front Genet. 2022. PMID: 35812760 Free PMC article.
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Çakmaklı S, Çankaya T, Gürsoy S, Koç A, Kırbıyık Ö, Kılıçarslan ÖA, Özer E, Erçal D, Bozkaya ÖG. Çakmaklı S, et al. Among authors: gursoy s. Cytogenet Genome Res. 2017;153(4):175-180. doi: 10.1159/000486775. Epub 2018 Mar 9. Cytogenet Genome Res. 2017. PMID: 29518772 Review.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Sakamoto M, Sasaki K, Sugie A, Nitta Y, Kimura T, Gürsoy S, Cinleti T, Iai M, Sengoku T, Ogata K, Suzuki A, Okamoto N, Iwama K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Miyatake S, Mizuguchi T, Taguri M, Ito S, Takahashi H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: gursoy s. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
Aksel Kılıçarslan Ö, Ataman E, Gürsoy S, Hazan F, Randa C, Çankaya T, Erçal D, Ülgenalp A, Giray Bozkaya Ö. Aksel Kılıçarslan Ö, et al. Among authors: gursoy s. Turk J Med Sci. 2018 Oct 31;48(5):911-915. doi: 10.3906/sag-1611-107. Turk J Med Sci. 2018. PMID: 30384553 Free article.
35 results