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Blood Advances|February 12, 2025
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohortMareike Tometten, Fabian Beier, Martin Kirschner, et al.Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.Journal of Neuromuscular Diseases|July 10, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient CohortStephanie Kleinle, Veronika Scholz, Anna Benet-Pagés, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 15, 2019
Germline <i>GPR161</i> Mutations Predispose to Pediatric MedulloblastomaMatthias Begemann, Sebastian M Waszak, Giles W Robinson, et al.Frontiers in Immunology|January 2, 2023
Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofilingFelix Schreibing, Monica T Hannani, Hyojin Kim, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.JHEP Reports : Innovation in Hepatology|March 4, 2021
Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosisTheresa H Wirtz, Philipp A Reuken, Christian Jansen, et al.American Journal of Human Genetics|October 5, 2010
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeHyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, et al.Blood|February 27, 2026
MDM4 HAPLOINSUFFICIENCY LEADS TO P53-MEDIATED BONE MARROW FAILURERicha Sharma, Senthil Velan Bhoopalan, Robert Meyer, et al.Cell|February 5, 2026
Molecular architecture of human dermal sleeping nociceptorsJannis Körner, Derek Howard, Hans Jürgen Solinski, et al.Pageof 15