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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
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly 2023 . Uctepe, Eyyup \| Vona, Barbara \| Esen, Fatma Nisa \| Sonmez, F. Mujgan \| Smol, Thomas \| Tümer, Sait \| Mancılar, Hanifenur \| Geylan Durgun, Dilan Ece \| Boute, Odile \| Moghbeli, Meysam \| Ghayoor Karimiani, Ehsan \| Hashemi, Narges \| Bakhshoodeh, Behnoosh \| Kim, Hyung Goo \| Maroofian, Reza \| Yesilyurt, Ahmet	2023		http://purl.org/ontology/bibo/Article
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions 2023 . Tschernoster, Nikolai \| Erger, Florian \| Kohl, Stefan \| Reusch, Björn \| Wenzel, Andrea \| Walsh, Stephen \| Thiele, Holger \| Becker, Christian \| Franitza, Marek \| Bartram, Malte P. \| Kömhoff, Martin \| Schumacher, Lena \| Kukat, Christian \| Borodina, Tatiana \| Quedenau, Claudia \| Nürnberg, Peter \| Rinschen, Markus M \| Driller, Jan H. \| Pedersen, Bjørn P. \| Schlingmann, Karl P. \| Hüttel, Bruno \| Bockenhauer, Detlef \| Beck, Bodo \| Altmüller, Janine	2023		http://purl.org/ontology/bibo/Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features 2021 . Schmidt, Julia \| Goergens, Jonas \| Pochechueva, Tatiana \| Kotter, Annika \| Schwenzer, Niko \| Sitte, Maren \| Werner, Gesa \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Isensee, Jörg \| Li, Yun \| Müller, Christian \| Leube, Barbara \| Reinhardt, H. Christian \| Hucho, Tim \| Salinas, Gabriela \| Helm, Mark \| Jachimowicz, Ron D. \| Wieczorek, Dagmar \| Kohl, Tobias \| Lehnart, Stephan E. \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study 2021 . Thye, Thorsten \| Evans, Jennifer A. \| Ruge, Gerd \| Loag, Wibke \| Ansong, Daniel \| Agbenyega, Tsiri \| Horstmann, Rolf D. \| May, Jürgen \| Schuldt, Kathrin	2021		http://purl.org/ontology/bibo/Article
Genotype imputation in case-only studies of gene-environment interaction: validity and power 2021 . Aleknonytė-Resch, Milda \| Szymczak, Silke \| Freitag-Wolf, Sandra \| Dempfle, Astrid \| Krawczak, Michael	2021		http://purl.org/ontology/bibo/Article
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum 2021 . Buelow, Markus \| Süßmuth, David \| Smith, Laurie D. \| Aryani, Omid \| CASTIGLIONI, CLAUDIA \| Stenzel, Werner \| Bertini, Enrico \| Schuelke, Markus \| Knierim, Ellen	2021		http://purl.org/ontology/bibo/Article

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