Suchergebnisse - "Jamwal, Manu"

PubPharm (17)

1

First reported co-occurrence of "GATA1-mutated X-linked thrombocytopenia with thalassemia (XLTT)" with heterozygous β-thalassemia

enthalten in: International journal of laboratory hematology | 2023

von Singh, N. | Bhatia, P. | Jamwal, M. | +5

2

A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1

enthalten in: Cancer genetics | 2022

von Mallik, N. | Singh, N. | Jamwal, M. | +5

3

Chronic eosinophilic leukemia with recurrent STAT5B N642H mutation-An entity with features of myelodysplastic syndrome/ myeloproliferative neoplasm overlap

enthalten in: Leukemia research | 2022

von Sreedharanunni, S. | Jamwal, M. | Balakrishnan, A. | +9

4

Familial genotypic and phenotypic heterogeneity and its implications on genetic counseling exemplified in two cases of hereditary pyropoikilocytosis/erythrocytic spectrin-linked hemolytic anemia masquerading as congenital dyserythropoietic anemia

enthalten in: Pediatric blood & cancer | 2021

von Jamwal, M. | Aggarwal, A. | Sharma, P. | +6

5

Hb Mizuho (HBB : c.206T>C): Pitfalls of Screening Tests in an Unstable Hemoglobin Variant Diagnosed after Targeted Next-Generation Sequencing

enthalten in: Hemoglobin | 2021

von Yadav, D. | Jamwal, M. | Singh, N. | +6

6

Hemolytic erythrocytosis : an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis

enthalten in: Annals of hematology | 2021

von Jamwal, M. | Mallik, N. | Aravindan, A. | +4

7

Autosomal dominant familial periodic fever patient with a missense variant c.215G>A (p.Cys72Tyr) in TNFRSF1A gene presenting as neutrophilia

enthalten in: European journal of medical genetics | 2021

von Rajpal, S. | Jamwal, M. | Lad, D. | +1

8

Clericuzio-type poikiloderma with neutropenia in a patient from India

enthalten in: American journal of medical genetics. Part A | 2021

von Bishnoi, A. | Jamwal, M. | Das, R. | +5

9

Congenital dyserythropoietic anemia type IV with high fetal hemoglobin caused by heterozygous KLF1 p.Glu325Lys : first report in an Indian infant

enthalten in: Annals of hematology | 2021

von Jamwal, M. | Aggarwal, A. | Sharma, P. | +2

10

De novo haemoglobin sabine masquerading as double heterozygosity for HbQ-India and β-thalassemia trait : first report from South Asia

enthalten in: Journal of clinical pathology | 2020

von Jamwal, M. | Kaur, J. | Chhabra, S. | +3