Suchergebnisse - "*Sequence Analysis, DNA"

PubPharm (396)

11

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions : 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

enthalten in: Journal of medical genetics | 2023

von Mussa, A. | Leoni, C. | Iacoviello, M. | +37

12

Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing

enthalten in: Journal of medical genetics | 2022

von Sano, Y. | Koyanagi, Y. | Wong, J. | +17

13

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

enthalten in: Journal of medical genetics | 2022

von Høyer, H. | Hilmarsen, H. | Sunder-Plassmann, R. | +14

14

Clinical, biochemical and genetic characteristics of MOGS-CDG : a rare congenital disorder of glycosylation

enthalten in: Journal of medical genetics | 2022

von Shimada, S. | Ng, B. | White, A. | +69

15

Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock

enthalten in: Circulation. Genomic and precision medicine | 2022

von Gorzynski, J. | Goenka, S. | Shafin, K. | +25

16

Assessment of DNA transfer, persistence, prevalence, and recovery considering the shedder status: an approach to improve analysis and evaluation

Erschienen: Dissertation, Universität Ulm, 2022

von Schwender, M.

17

Validierung eines Short Tandem Repeat-basierten Analyseverfahrens mittels Massively Parallel Sequencing zur Identifizierung forensischer Proben

Erschienen: Dissertation, Universität Ulm, 2022

von Silvery, J.

18

Early-onset ischaemic stroke in a patient with the novel F2 c.1824C

in: Vojnosanitetski Pregled | 2022

von Pruner Iva | Dinčić Evica | Gvozdenov Maja | +3

19

Fibroblast growth factor receptor 3 gene (FGFR3) mutations in high-grade muscle-invasive urothelial bladder cancer in a Brazilian population: evaluation and prevalence

in: Einstein (São Paulo) | 2022

von Camila Ribeiro de Arruda Monteiro | Fernando Korkes | Deborah Krutman-Zveibil | +1

20

Technical in-depth comparison of two massive parallel DNA-sequencing methods for formalin-fixed paraffin-embedded tissue from victims of sudden cardiac death

enthalten in: Forensic science international. Genetics | 2021

von Adolfsson, E. | Qvick, A. | Gréen, H. | +4