Suchergebnisse - "Giri, Neelam"

PubPharm (147)

1

The distribution and accumulation of the shortest telomeres in telomere biology disorders

enthalten in: British journal of haematology | 2023

von Raj, H. | Lai, T. | Niewisch, M. | +6

2

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders

enthalten in: Hepatology (Baltimore, Md.) | 2023

von Vittal, A. | Niewisch, M. | Bhala, S. | +8

3

Differential diagnosis of bone marrow failure syndromes guided by machine learning

enthalten in: Blood | 2023

von Gutierrez-Rodrigues, F. | Munger, E. | Ma, X. | +35

CommentIn: Blood. 2023 Apr 27;141(17):2040-2042. - PMID 37103950

4

Genotype-phenotype and outcome associations in patients with Fanconi anemia : the National Cancer Institute cohort

enthalten in: Haematologica | 2023

von Altintas, B. | Giri, N. | McReynolds, L. | +2

5

Shwachman Diamond syndrome : narrow genotypic spectrum and variable clinical features

enthalten in: Pediatric research | 2022

von Thompson, A. | Giri, N. | Gianferante, D. | +4

6

The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia : analysis of 48 patients

enthalten in: The Journal of hand surgery, European volume | 2022

von Bourke, G. | Wilks, D. | Kinsey, S. | +3

7

Fanconi anaemia : A syndrome with distinct subgroups

enthalten in: British journal of haematology | 2022

von Alter, B. | Giri, N. | McReynolds, L. | +1

8

Disease progression and clinical outcomes in telomere biology disorders

enthalten in: Blood | 2022

von Niewisch, M. | Giri, N. | McReynolds, L. | +4

CommentIn: Blood. 2022 Mar 24;139(12):1776-1777. - PMID 35323880

9

Risk of cancer in heterozygous relatives of patients with Fanconi anemia

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von McReynolds, L. | Giri, N. | Leathwood, L. | +3

10

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

enthalten in: Frontiers in genetics | 2022

von Cole, S. | Giri, N. | Alter, B. | +1

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