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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018)
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al.
Journal article
DNA methylation-based reclassification of olfactory neuroblastoma (2018)
Capper D, Engel NW, Stichel D, Lechner M, Gloess S, Schmid S, Koelsche C, et al.
Journal article
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding (2018)
Brackmann F, Türk M, Gratzki N, Rompel O, Jungbluth H, Schröder R, Trollmann R
Journal article
Selenium-binding protein 1 is down-regulated in malignant melanoma (2018)
Schott M, de Jel MM, Engelmann JC, Renner P, Geissler EK, Boßerhoff AK, Kuphal S
Journal article
Percutaneous Creation of a Central Iliac Arteriovenous Anastomosis for the Treatment of Arterial Hypertension (2018)
Bertog SC, Sobotka NA, Sobotka PA, Lobo MD, Sievert K, Vaskelyte L, Sievert H, Schmieder R
Journal article
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Journal article
Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening (2018)
Siegler L, Erber R, Burghaus S, Brodkorb T, Wachter D, Wilkinson N, Bolton J, et al.
Journal article
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses (2018)
Painter JN, O'Mara TA, Morris AP, Cheng THT, Gorman M, Martin L, Hodson S, et al.
Journal article
Identification of nine new susceptibility loci for endometrial cancer (2018)
O'Mara TA, Glubb DM, Amant F, Annibali D, Ashton K, Attia J, Auer PL, et al.
Journal article
Characteristic morphological changes in anti-VEGF therapy induced glomerular microangiopathy (2018)
Pfister F, Amann KU, Daniel C, Klewer M, Büttner A, Büttner-Herold M
Journal article
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