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4 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population 2024 . Mahdieh, Nejat \| Heidari, Morteza \| Rezaei, Zahra \| Tavasoli, Ali Reza \| Hosseinpour, Sareh \| Rasulinejad, Maryam \| Dehnavi, Ali Zare \| Ghahvechi Akbari, Masoud \| Badv, Reza Shervin \| Vafaei, Elahe \| Mohebbi, Ali \| Mohammadi, Pouria \| Hosseiny, Seyyed Mohammad Mahdi \| Azizimalamiri, Reza \| Nikkhah, Ali \| Pourbakhtyaran, Elham \| Rohani, Mohammad \| Khanbanha, Narges \| Nikbakht, Sedigheh \| Movahedinia, Mojtaba \| Karimi, Parviz \| Ghabeli, Homa \| Hosseini, Seyed Ahmad \| Rashidi, Fatemeh Sadat \| Garshasbi, Masoud \| Kashani, Morteza Rezvani \| Ghiasvand, Noor M. \| Zuchner, Stephan \| Synofzik, Matthis \| Ashrafi, Mahmoud Reza	2024		http://purl.org/ontology/bibo/Article
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities 2024 . Kakar, Naseebullah \| Mascarenhas, Selinda \| Ali, Asmat \| Ijlal Haider, Syed M. \| Badiger, Vaishnavi Ashok \| Ghofrani, Mobina Shadman \| Kruse, Nathalie \| Hashmi, Sohana Nadeem \| Pozojevic, Jelena \| Balachandran, Saranya \| Toft, Mathias \| Malik, Sajid \| Händler, Kristian \| Fatima, Ambrin \| Iqbal, Zafar \| Shukla, Anju \| Spielmann, Malte \| Radhakrishnan, Periyasamy	2024		http://purl.org/ontology/bibo/Article
Diagnostic elusiveness of pathogenic variants in cases of autosomal recessive diseases 2024 . Schmidtke, Joerg \| Koch, Sebastian \| Krawczak, Michael	2024		http://purl.org/ontology/bibo/Article
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans 2021 . Vona, Barbara \| Mazaheri, Neda \| Lin, Sheng-Jia \| Dunbar, Lucy \| Maroofian, Reza \| Azaiez, Hela \| Booth, Kevin T. \| Vitry, Sandrine \| Rad, Abolfazl \| Rüschendorf, Franz \| Varshney, Pratishtha \| Fowler, Ben \| Beetz, Christian \| Alagramam, Kumar N. \| Murphy, David \| Shariati, Gholamreza \| Sedaghat, Alireza \| Houlden, Henry \| Petree, Cassidy \| VijayKumar, Shruthi \| Smith, Richard \| Haaf, Thomas \| EL-AMRAOUI, Aziz \| Bowl, Michael \| Varshney, Gaurav K. \| Galehdari, Hamid	2021		http://purl.org/ontology/bibo/Article