Suchergebnisse - "Smith, Samuel C"

PubPharm (63)

1

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

enthalten in: Gastroenterology | 2024

von Schönauer, R. | Sierks, D. | Boerrigter, M. | +87

2

Validation of a new optical diagnosis training module to improve dysplasia characterization in inflammatory bowel disease : a multicenter international study

enthalten in: Gastrointestinal endoscopy | 2024

von Iacucci, M. | Bonovas, S. | Bazarova, A. | +119

3

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

enthalten in: Journal of medical genetics | 2024

von Smith, C. | Laugel-Haushalter, V. | Hany, U. | +93

4

Cerebral visual impairment : genetic diagnoses and phenotypic associations

enthalten in: Journal of medical genetics | 2024

von Shaw, E. | Flitcroft, I. | Bowman, R. | +62

5

Neutrophil-only Histological Assessment of Ulcerative Colitis Correlates with Endoscopic Activity and Predicts Long-term Outcomes in a Multicentre Study

enthalten in: Journal of Crohn's & colitis | 2023

von Parigi, T. | Cannatelli, R. | Nardone, O. | +14

6

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

enthalten in: Kidney international | 2023

von Claus, L. | Chen, C. | Stallworth, J. | +102

7

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

enthalten in: Kidney international | 2023

von Sadeghi-Alavijeh, O. | Chan, M. | Moochhala, S. | +61

CommentIn: Kidney Int. 2023 Nov;104(5):882-885. - PMID 37863636

8

Computer-Aided Imaging Analysis of Probe-Based Confocal Laser Endomicroscopy With Molecular Labeling and Gene Expression Identifies Markers of Response to Biological Therapy in IBD Patients : The Endo-Omics Study

enthalten in: Inflammatory bowel diseases | 2023

von Iacucci, M. | Jeffery, L. | Acharjee, A. | +15

9

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition

enthalten in: Brain : a journal of neurology | 2023

von Martins Custodio, H. | Clayton, L. | Bellampalli, R. | +77

10

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

enthalten in: American journal of human genetics | 2023

von Vetro, A. | Pelorosso, C. | Balestrini, S. | +122

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