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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 - 7 (of 7 Records)

Query Trace: Counseling and RHO[original query]
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2008 Nov 119 (11): 2455-8.
Buoni Sabrina, Zannolli Raffaella, Felice Claudio De, Saponari Simona, Strambi Mirella, Dotti Maria Teresa, Castrucci Elena, Corbini Letizia, Orsi Alessandra, Hayek Jose
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
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104.
Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo
Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis.
Neurobiology of aging 2019 Mar .
Song Yang, Lin Feng, Ye Cheng-Hui, Huang Huaping, Li Xuying, Yao Xiaoli, Xu Yanming, Wang Chaodo
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.
International ophthalmology 2019 Apr .
Roshandel Danial, Rafati Maryam, Khorami Sara, Novin Baheran Nima, Jalali Setareh, Tabatabaie Razieh, Rezai Safura, Ahmadieh Hamid, Ghaffari Saeed Re
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717.
Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Frontiers in cell and developmental biology 2021 2 8 629994.
Xiao Ting, Xie Yue, Zhang Xin, Xu Ke, Zhang Xiaohui, Jin Zi-Bing, Li Ya
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