E-LIB Suche - Ergebnisse für: Schulze, Katharina V.

1

EP1243: COMMON VARIANTS IN CARBOHYDRATES DIGESTIVE ENZYME G..:

Hong, Hyejeong ; Schulze, Katharina V. ; Copeland, Ian E....
Gastroenterology. 162 (2022) 7 - p. S-1076 , 2022

Link: https://doi.org/10.1016/..

2

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V. ; Assia Batzir, Nurit...
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

3

Clinical characterization of individuals with the distal 1q..:

Edwards, Stacey D. ; Schulze, Katharina V. ; Rosenfeld, Jill A....
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1388-1398 , 2021

Link: https://doi.org/10.1002/..

4

Detection of low-level parental somatic mosaicism for clini..:

Domogala, Daniel D. ; Gambin, Tomasz ; Zemet, Roni...
Human Genomics. 15 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..

5

Biases in arginine codon usage correlate with genetic disea..:

Schulze, Katharina V. ; Hanchard, Neil A. ; Wangler, Michael F.
Genetics in Medicine. 22 (2020) 8 - p. 1407-1412 , 2020

Link: https://doi.org/10.1038/..

6

Edematous severe acute malnutrition is characterized by hyp..:

Schulze, Katharina V. ; Swaminathan, Shanker ; Howell, Sharon...
Nature Communications. 10 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

7

Aberrant DNA methylation as a diagnostic biomarker of diabe..:

Schulze, Katharina V. ; Bhatt, Amit ; Azamian, Mahshid S....
Genetics in Medicine. 21 (2019) 11 - p. 2453-2461 , 2019

Link: https://doi.org/10.1038/..

8

Novel parent-of-origin-specific differentially methylated l..:

Schulze, Katharina V. ; Szafranski, Przemyslaw ; Lesmana, Harry...
Clinical Epigenetics. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

9

TRX-LOGOS - a graphical tool to demonstrate DNA information..:

Fortin, Connor H. ; Schulze, Katharina V. ; Babbitt, Gregory A.
Source Code for Biology and Medicine. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

10

Synonymous codon bias and functional constraint on GC3-rela..:

Babbitt, Gregory A. ; Alawad, Mohammed A. ; Schulze, Katharina V..
Nucleic Acids Research. 42 (2014) 17 - p. 10915-10926 , 2014

Link: https://doi.org/10.1093/..

11

Genetic Variants in Carbohydrate Digestive Enzyme and Trans..:

Hong, Hyejeong ; Schulze, Katharina V ; Copeland, Ian E...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543038/. , 2023

Link: http://www.ncbi.nlm.nih...

12

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V ; Assia Batzir, Nurit...
Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, et al. "Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits." Genome Medicine, 14, (2022) Springer Nature: https://doi.org/10.1186/s13073-022-01113-y.. , 2022

Link: https://hdl.handle.net/1..

13

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V ; Assia Batzir, Nurit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526336/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Detection of low-level parental somatic mosaicism for clini..:

Domogala, Daniel D ; Gambin, Tomasz ; Zemet, Roni...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686574/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Edematous severe acute malnutrition is characterized by hyp..:

Schulze, Katharina V ; Swaminathan, Shanker ; Howell, Sharon...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923441/. , 2019

Link: http://www.ncbi.nlm.nih...