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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Disease and PDE6B[original query]
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
Molecular vision 2007 13 (): 287-92.
Gao Yong-Qing, Danciger Michael, Ozgul Riza Köksal, Gribanova Yekaterina, Jacobson Samuel, Farber Debora
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
American journal of ophthalmology 2008 Nov 146 (5): 780-8.
Tsang Stephen H, Tsui Irena, Chou Chai Lin, Zernant Jana, Haamer Eneli, Iranmanesh Reza, Tosi Joaquin, Allikmets Ran
Genotyping microarray for CSNB-associated genes.
Investigative ophthalmology & visual science 2009 Dec 50 (12): 5919-26.
Zeitz Christina, Labs Stephan, Lorenz Birgit, Forster Ursula, Uksti Janne, Kroes Hester Y, De Baere Elfride, Leroy Bart P, Cremers Frans P M, Wittmer Mariana, van Genderen Maria M, Sahel José-Alain, Audo Isabelle, Poloschek Charlotte M, Mohand-Saïd Saddek, Fleischhauer Johannes C, Hüffmeier Ulrike, Moskova-Doumanova Veselina, Levin Alex V, Hamel Christian P, Leifert Dorothee, Munier Francis L, Schorderet Daniel F, Zrenner Eberhart, Friedburg Christoph, Wissinger Bernd, Kohl Susanne, Berger Wolfga
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Molecular vision 2012 18 2398-410.
Kim Cinoo, Kim Kwang Joong, Bok Jeong, Lee Eun-Ju, Kim Dong-Joon, Oh Ji Hee, Park Sung Pyo, Shin Joo Young, Lee Jong-Young, Yu Hyeong G
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Genes 2017 10 8 (10): .
Comander Jason, Weigel-DiFranco Carol, Maher Matthew, Place Emily, Wan Aliete, Harper Shyana, Sandberg Michael A, Navarro-Gomez Daniel, Pierce Eric
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.
Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237.
Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Genes 2021 5 12 (5): .
Kim Yoon-Jeon, Kim You-Na, Yoon Young-Hee, Seo Eul-Ju, Seo Go-Hun, Keum Changwon, Lee Beom-Hee, Lee Joo-Yo
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
International journal of molecular sciences 2021 Feb 22 (5): .
Kuehlewein Laura, Zobor Ditta, Stingl Katarina, Kempf Melanie, Nasser Fadi, Bernd Antje, Biskup Saskia, Cremers Frans P M, Khan Muhammad Imran, Mazzola Pascale, Schäferhoff Karin, Heinrich Tilman, Haack Tobias B, Wissinger Bernd, Zrenner Eberhart, Weisschuh Nicole, Kohl Susan
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