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Journal of Clinical Medicine|August 12, 2022
Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature ReviewTatjana Welzel, Lea Oefelein, Ursula Holzer, et al.
HLA|May 9, 2025
Deletion of the HLA-B Gene in One of the Inherited Haplotypes in a Northern European FamilyFrank Grünebach, Tobias B Haack, Michaela Döring, et al.
Studies in Health Technology and Informatics|May 19, 2023
Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic DisordersÖmer Sümer, Fabio Hellmann, Alexander Hustinx, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Development (Cambridge, England)|November 22, 2013
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafishAlexander Hruscha, Peter Krawitz, Alexandra Rechenberg, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|November 14, 2020
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosisMilan Zimmermann, Natalie Deininger, Sophia Willikens, et al.
International Journal of Molecular Sciences|March 25, 2022
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis PigmentosaAnna Avesani, Laura Bielefeld, Nicole Weisschuh, et al.
Genes|July 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German CohortFadi Nasser, Susanne Kohl, Anne Kurtenbach, et al.
Orphanet Journal of Rare Diseases|August 3, 2017
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological functionBenjamin Röeben, Justus Marquetand, Benjamin Bender, et al.
Molecular Genetics and Metabolism|May 21, 2011
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiencyJohannes A Mayr, Olaf Bodamer, Tobias B Haack, et al.
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