Suchergebnisse - "Haller, Gabe"

PubPharm (50)

1

Streamlined identification of clinically and functionally relevant genetic regulators of lower-tract urogenital development

enthalten in: Proceedings of the National Academy of Sciences of the United States of America | 2024

von Haller, M. | Yin, Y. | Haller, G. | +4

2

Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type

enthalten in: Research and practice in thrombosis and haemostasis | 2023

von Sadler, B. | Christopherson, P. | Perry, C. | +8

3

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

enthalten in: The Journal of clinical investigation | 2023

von Li, C. | Wilborn, J. | Pittman, S. | +5

CommentIn: J Clin Invest. 2023 Jun 15;133(12):. - PMID 37317969

4

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

enthalten in: Annals of clinical and translational neurology | 2023

von Tayebi, N. | Leon-Ricardo, B. | McCall, K. | +12

5

Elucidating the Genetic Basis of Chiari I Malformation

enthalten in: Neurosurgery clinics of North America | 2023

von Haller, G. | Sadler, B.

6

Current and Future Approaches to Classify VUSs in LGMD-Related Genes

enthalten in: Genes | 2022

von Li, C. | Haller, G. | Weihl, C.

7

Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations

enthalten in: Blood advances | 2022

von Sadler, B. | Minard, C. | Haller, G. | +14

8

Extradural decompression versus duraplasty in Chiari malformation type I with syrinx : outcomes on scoliosis from the Park-Reeves Syringomyelia Research Consortium

enthalten in: Journal of neurosurgery. Pediatrics | 2021

von Sadler, B. | Skidmore, A. | Gewirtz, J. | +66

9

von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

enthalten in: Blood | 2021

von Sadler, B. | Christopherson, P. | Haller, G. | +2

CommentIn: Blood. 2021 Jun 10;137(23):3160-3161. - PMID 34110402

10

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

enthalten in: American journal of human genetics | 2021

von Sadler, B. | Wilborn, J. | Antunes, L. | +28

ErratumFor: Am J Hum Genet. 2021 Jan 7;108(1):100-114. - PMID 33352116

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