Suchergebnisse - "Jamwal, Manu"

PubPharm (19)

1

Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II : a diagnostic pitfall

enthalten in: Journal of clinical pathology | 2024

von Jamwal, M. | Sreedharanunni, S. | Taak, R. | +7

2

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

3

Dehydrated hereditary stomatocytosis masquerading as primary haemochromatosis : a diagnostic challenge

enthalten in: Pathology | 2023

von Jamwal, M. | Singh, N. | Sharma, P. | +4

4

A rare occurrence of haemophilia A in a female due to compound heterozygosity of a de novo missense variant (presenting as pseudohomozygous) in F8 gene with Xq28 deletion inherited from mother

enthalten in: International journal of laboratory hematology | 2022

von Sharma, R. | Jamwal, M. | Senee, H. | +5

5

Hemoglobin Beth Israel [HBB:c.308A>G (p.Asn103Ser)] : an ultra-rare, low oxygen-affinity, non-methemoglobinemic hemoglobin diagnosed on targeted resequencing as cause of dominantly inherited benign cyanosis

enthalten in: Annals of hematology | 2022

von Singh, N. | Jamwal, M. | Sharma, R. | +5

6

Ultra-rare Hb Regina (HBB:c.289C>G) with coinherited β-thalassaemia trait : solving the puzzle for extreme erythrocytosis

enthalten in: Journal of clinical pathology | 2022

von Mallik, N. | Jamwal, M. | Sharma, R. | +6

7

Imatinib responsive erythrocytosis in a patient with FIP1L1::PDGFRA rearranged myeloid neoplasm with hypereosinophilia - Another manifestation of a stem cell neoplasm

enthalten in: Leukemia research | 2022

von Virk, H. | Rathore, S. | Anshu, A. | +4

8

Hemoglobin Andrew-Minneapolis-Bijnor HBB:c.[413T>C;435G>C] in a complex genotype with β-thalassemia trait : A diagnostic and management conundrum

enthalten in: International journal of laboratory hematology | 2022

von Khaire, N. | Jamwal, M. | Sharma, P. | +4

9

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

10

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