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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 - 5 (of 5 Records)

Query Trace: Disease and CC2D2A[original query]
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Journal of medical genetics 2012 Feb 49 (2): 126-37.
Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty D
Joubert syndrome: genotyping a Northern European patient cohort.
European journal of human genetics : EJHG 2015 Apr .
Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Journal of medical genetics 2016 Feb .
Al-Hamed Mohamed H, Kurdi Wesam, Alsahan Nada, Alabdullah Zainab, Abudraz Rania, Tulbah Maha, Alnemer Maha, Khan Rubina, Al-Jurayb Haya, Alahmed Ahmed, Tahir Asma I, Khalil Dania, Edwards Noel, Al Abdulaziz Basma, Binhumaid Faisal S, Majid Salma, Faquih Tariq, El-Kalioby Mohamed, Abouelhoda Mohamed, Altassan Nada, Monies Dorota, Meyer Brian, Sayer John A, Albaqumi Mamdo
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Pediatric neurology 2020 3 106 43-49.
Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke
Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.
Neurology. Genetics 2024 4 10 (3): e200153.
Ivana R Raslan, Thiago Yoshinaga Tonholo Silva, Fernando Kok, Marcelo M Rodrigues, Marcelo M Aragão, Ricardo S Pinho, Marcondes C França, Orlando G Barsottini, José Luiz Pedro
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