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The Journal of Pediatrics|June 12, 2012
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell featuresSabrina Spengler, Matthias Begemann, Nadina Ortiz Brüchle, et al.
Npj Antimicrobials and Resistance|June 23, 2026
β-lactamase-mediated hydrolysis of cloxacillin increases tolerance in Escherichia coliNora C Brüchle, Kees T Veldman, Quillan Dijkstra, et al.
Human Mutation|August 21, 2007
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, et al.
Molecular Genetics and Metabolism|February 7, 2012
Life with too much polyprenol: polyprenol reductase deficiencyJ E H Gründahl, Z Guan, S Rust, et al.
Microbial Biotechnology|May 16, 2021
SARS-CoV-2 RNA screening in routine pathology specimensSaskia von Stillfried, Sophia Villwock, Roman D Bülow, et al.
Human Mutation|April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndromeValeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
International Urology and Nephrology|February 28, 2012
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genesHartmut P H Neumann, Janina Bacher, Zinaida Nabulsi, et al.
Journal of the American Society of Nephrology : JASN|October 29, 2011
Mutations in multiple PKD genes may explain early and severe polycystic kidney diseaseCarsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle, et al.
Molecular Oncology|February 20, 2024
ITIH5 as a multifaceted player in pancreatic cancer suppression, impairing tyrosine kinase signaling, cell adhesion and migrationJennifer Kosinski, Antonio Sechi, Johanna Hain, et al.
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