Suchergebnisse - "Rendon, Augusto"

PubPharm (108)

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

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

3

Cerebral visual impairment : genetic diagnoses and phenotypic associations

enthalten in: Journal of medical genetics | 2024

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

4

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme

enthalten in: Nature medicine | 2024

von Sosinsky, A. | Ambrose, J. | Cross, W. | +31

5

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

6

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

7

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

8

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

9

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

enthalten in: Brain : a journal of neurology | 2023

von Zanovello, M. | Ibáñez, K. | Brown, A. | +117

10

A founder UMOD variant is a common cause of hereditary nephropathy in the British population

enthalten in: Journal of medical genetics | 2023

von Valluru, M. | Chung, N. | Gilchrist, M. | +64

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