Suchergebnisse - "Dasari, Surendra"

PubPharm (31)

1

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

enthalten in: Annals of clinical and translational neurology | 2024

von Dohrn, M. | Bademci, G. | Rebelo, A. | +110

2

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

enthalten in: American journal of medical genetics. Part A | 2024

von Ezell, K. | Tinker, R. | Furuta, Y. | +110

3

Pathologic-genomic correlation identified a novel variant in FN1 and established the diagnosis of recurrent fibronectin glomerulopathy in the kidney allograft

enthalten in: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons | 2024

von Batal, I. | Nasr, S. | Dasari, S. | +5

4

Anakinra-Associated Systemic Amyloidosis

enthalten in: Arthritis & rheumatology (Hoboken, N.J.) | 2024

von Alehashemi, S. | Dasari, S. | Metpally, A. | +18

5

Anakinra-associated renal amyloidosis

enthalten in: Kidney international | 2024

von Nasr, S. | Alehashemi, S. | Dasari, S. | +6

6

A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course

enthalten in: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis | 2023

von Muchtar, E. | Dasari, S. | Theis, J. | +6

7

H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

enthalten in: American journal of medical genetics. Part A | 2023

von Borja, N. | Borjas-Mendoza, P. | Bivona, S. | +108

8

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

enthalten in: Annals of clinical and translational neurology | 2023

von Pujol-Giménez, J. | Mirzaa, G. | Blue, E. | +131

9

Light Chain-Only Immunotactoid Glomerulopathy : A Case Report

enthalten in: American journal of kidney diseases : the official journal of the National Kidney Foundation | 2023

von Bu, L. | Javaugue, V. | Chauvet, S. | +6

10

Penile squamous cell carcinoma exclusive to the shaft, with a proposal for a novel staging system

enthalten in: Human pathology | 2023

von Tekin, B. | Guo, R. | Cheville, J. | +10