Suchergebnisse - "Dasari, Surendra"

PubPharm (408)

41

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

enthalten in: Journal of medical genetics | 2023

von Mohajeri, A. | Vaseghi-Shanjani, M. | Rosenfeld, J. | +126

42

Macrocephaly and developmental delay caused by missense variants in RAB5C

enthalten in: Human molecular genetics | 2023

von Koop, K. | Yuan, W. | Tessadori, F. | +146

43

Impact of race-independent equations on estimating glomerular filtration rate for the assessment of kidney dysfunction in liver disease

enthalten in: ResearchSquare.com | 2023

von Stämmler, F. | Derain-Dubourg, L. | Lemoine, S. | +5

44

Unraveling non-participation in genomic research : A complex interplay of barriers, facilitators, and sociocultural factors

enthalten in: Journal of genetic counseling | 2023

von McConkie-Rosell, A. | Spillmann, R. | Schoch, K. | +106

45

Genomics Research with Undiagnosed Children : Ethical Challenges at the Boundaries of Research and Clinical Care

enthalten in: The Journal of pediatrics | 2023

von Halley, M. | Young, J. | Tang, C. | +106

46

Malignant Histiocytosis Comprises a Phenotypic Spectrum That Parallels the Lineage Differentiation of Monocytes, Macrophages, Dendritic Cells, and Langerhans Cells

enthalten in: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc | 2023

von Ravindran, A. | Dasari, S. | Ruan, G. | +10

47

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Shashi, V. | Schoch, K. | Ganetzky, R. | +125

48

Amino acid sequence homology of monoclonal serum free light chain dimers and tissue deposited light chains in AL amyloidosis: a pilot study

enthalten in: Clinical chemistry and laboratory medicine | 2023

von Goldis, R. | Kaplan, B. | Arad, M. | +13

49

Gastrointestinal amyloidosis : an often unexpected finding with systemic implications

enthalten in: Human pathology | 2023

von Hagen, C. | Dasari, S. | Theis, J. | +12

50

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