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4 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression 2024 . Pehlivan, Davut \| Bengtsson, Jesse D. \| Bajikar, Sameer \| Grochowski, Christopher M. \| Lun, Ming Yin \| Gandhi, Mira \| Jolly, Angad \| Trostle, Alexander J. \| Harris, Holly K. \| Suter, Bernhard \| Aras, Sukru \| Ramocki, Melissa B. \| Du, Haowei \| Mehaffey, Michele G. \| Park, KyungHee \| Wilkey, Ellen \| Karakas, Cemal \| Eisfeldt, Jesper J. \| Pettersson, Maria \| Liu, Lynn \| Shinawi, Marwan S. \| Kimonis, Virginia E. \| Wiszniewski, Wojciech \| Mckenzie, Kyle \| Roser, Timo \| Vianna-Morgante, Angela M. \| Cornier, Alberto S. \| Abdelmoity, Ahmed \| Hwang, James P. \| Jhangiani, Shalini N. \| Muzny, Donna M. \| Mitani, Tadahiro \| Muramatsu, Kazuhiro \| Nabatame, Shin \| Glaze, Daniel G. \| Fatih, Jawid M. \| Gibbs, Richard A. \| Liu, Zhandong \| Lindstrand, Anna \| Sedlazeck, Fritz J. \| Lupski, James R. \| Zoghbi, Huda \| Carvalho, Claudia MB	2024		http://purl.org/ontology/bibo/Article
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study 2024 . Kastellan, Svenja \| Kalb, Reinhard \| Sajjad, Bia \| McReynolds, Lisa J. \| Giri, Neelam \| Samuel, David \| Milde, Till \| Elbracht, Miriam \| Holzhauer, Susanne \| Niewisch, Marena R. \| Kratz, Christian P.	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
An ancient polymorphic regulatory region within the BDNF gene associated with obesity modulates anxiety-like behaviour in mice and humans 2024 . McEwan, Andrew \| Hing, Benjamin \| Erickson, Johanna C. \| Hutchings, Greg \| Urama, Charity \| Norton-Hughes, Emily \| D’Ippolito, Mariam \| Berry, Susan \| Delibegovic, Mirela \| Grassmann, Felix \| MacKenzie, Alasdair	2024		http://purl.org/ontology/bibo/Article