E-LIB Suche - Ergebnisse für: Haack, Tobias B

1

Comprehensive analysis of two hotspot codons in the TUBB4B ..:

Bodenbender, Jan-Philipp ; Marino, Valerio ; Philipp, Julia...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

2

Novel variants in CSF1R associated with adult-onset leukoen..:

Schmitz, Anne S. ; Raju, Janani ; Köhler, Wolfgang...
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

3

Biallelic truncating variants in PACSIN3 cause childhood-on..:

Distelmaier, Felix ; Sezer, Abdullah ; Helm, Christina...
Brain. 147 (2024) 7 - p. e45-e49 , 2024

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

4

Heterozygous loss-of-function SMC3 variants are associated ..:

Ansari, Morad ; Faour, Kamli N.W. ; Shimamura, Akiko...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100273 , 2024

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

5

Quality assurance for next-generation sequencing diagnostic..:

Maver, Aleš ; Lohmann, Katja ; Borovečki, Fran...
European Journal of Human Genetics. 32 (2024) 8 - p. 1014-1021 , 2024

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

6

Uncovering genetic mimics in multiple sclerosis: A single-c..:

Mandler, Julia M. ; Härtl, Johanna ; Cordts, Isabell...
Multiple Sclerosis Journal - Experimental, Translational and Clinical. 10 (2024) 3 - p. , 2024

Link: https://doi.org/10.1177/..

7

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes..:

Figueroa, Karla P. ; Gross, Caspar ; Buena-Atienza, Elena...
Nature Genetics. 56 (2024) 6 - p. 1080-1089 , 2024

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

8

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics. , 2024

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

9

α‐Methylacyl‐CoA Racemase Deficiency in a Patient with Atax..:

Rashedi, Ronak ; Gelderblom, Mathias ; Prilop, Lisa...
Movement Disorders Clinical Practice. , 2024

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

10

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: l..:

Gustavsson, Emil K ; Follett, Jordan ; Trinh, Joanne...
The Lancet Neurology. 23 (2024) 6 - p. 603-614 , 2024

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

11

Multiomic ALS signatures highlight subclusters and sex diff..:

Caldi Gomes, Lucas ; Hänzelmann, Sonja ; Hausmann, Fabian...
Nature Communications. 15 (2024) 1 - p. , 2024

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

12

Lessons Learned from Translating Genome Sequencing to Clini..:

Park, Joohyun ; Sturm, Marc ; Seibel-Kelemen, Olga..
Genes. 15 (2024) 1 - p. 136 , 2024

Link: https://doi.org/10.3390/..

13

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics. 32 (2024) 8 - p. 998-1004 , 2024

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

14

Corrigendum to "Predicting clinical phenotypes of metachrom..:

Santhanakumaran, Vidiyaah ; Groeschel, Samuel ; Harzer, Klaus...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107372 , 2023

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

15

Family and literature analysis demonstrates phenotypic effe..:

Tomforde, Maike ; Steinbach, Meike ; Haack, Tobias B..
neurogenetics. 24 (2023) 4 - p. 273-278 , 2023

Link: https://doi.org/10.1007/..