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Manu Jamwal

Showing results (21-30 of 63) with videos related to

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Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|March 23, 2026
Overcoming the PROSP pseudogene challenge: accurate diagnosis of a novel PROS1 variant in a patient with dural venous sinus thrombosisVasant Kumar, Debadrita Ray, Manu Jamwal, et al.
Journal of Clinical Pathology|March 22, 2018
Overhydrated stomatocytosis associated with a complex <i>RHAG</i> genotype including a novel <i>de novo</i> mutationManu Jamwal, Anu Aggarwal, Man Updesh Singh Sachdeva, et al.
Cancer Genetics|July 31, 2021
A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1Nabhajit Mallik, Namrata Singh, Manu Jamwal, et al.
American Journal of Medical Genetics. Part A|October 28, 2020
Clericuzio-type poikiloderma with neutropenia in a patient from IndiaAnuradha Bishnoi, Manu Jamwal, Reena Das, et al.
Annals of Hematology|September 30, 2022
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 cyanosisNamrata Singh, Manu Jamwal, Ritika Sharma, et al.
International Journal of Laboratory Hematology|June 30, 2022
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 motherRitika Sharma, Manu Jamwal, Hari Kishan Senee, et al.
International Journal of Laboratory Hematology|June 29, 2023
First reported co-occurrence of "GATA1-mutated X-linked thrombocytopenia with thalassemia (XLTT)" with heterozygous β-thalassemiaNamrata Singh, Prateek Bhatia, Manu Jamwal, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 23, 2017
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infantManu Jamwal, Anu Aggarwal, Anirban Das, et al.
Journal of Clinical Pathology|January 19, 2022
Ultra-rare Hb Regina (<i>HBB</i>:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosisNabhajit Mallik, Manu Jamwal, Ritika Sharma, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 25, 2016
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three casesManu Jamwal, Anu Aggarwal, Verinder Kumar, et al.
Pageof 7

Showing results (21-30 of 63) with videos related to

Sort By:
Pageof 7
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|March 23, 2026
Overcoming the PROSP pseudogene challenge: accurate diagnosis of a novel PROS1 variant in a patient with dural venous sinus thrombosisVasant Kumar, Debadrita Ray, Manu Jamwal, et al.
Journal of Clinical Pathology|March 22, 2018
Overhydrated stomatocytosis associated with a complex <i>RHAG</i> genotype including a novel <i>de novo</i> mutationManu Jamwal, Anu Aggarwal, Man Updesh Singh Sachdeva, et al.
Cancer Genetics|July 31, 2021
A novel ATRX splice variant causing acquired HbH disease in myelodysplastic syndrome with excess blasts-1Nabhajit Mallik, Namrata Singh, Manu Jamwal, et al.
American Journal of Medical Genetics. Part A|October 28, 2020
Clericuzio-type poikiloderma with neutropenia in a patient from IndiaAnuradha Bishnoi, Manu Jamwal, Reena Das, et al.
Annals of Hematology|September 30, 2022
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 cyanosisNamrata Singh, Manu Jamwal, Ritika Sharma, et al.
International Journal of Laboratory Hematology|June 30, 2022
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 motherRitika Sharma, Manu Jamwal, Hari Kishan Senee, et al.
International Journal of Laboratory Hematology|June 29, 2023
First reported co-occurrence of "GATA1-mutated X-linked thrombocytopenia with thalassemia (XLTT)" with heterozygous β-thalassemiaNamrata Singh, Prateek Bhatia, Manu Jamwal, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 23, 2017
Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infantManu Jamwal, Anu Aggarwal, Anirban Das, et al.
Journal of Clinical Pathology|January 19, 2022
Ultra-rare Hb Regina (<i>HBB</i>:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosisNabhajit Mallik, Manu Jamwal, Ritika Sharma, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 25, 2016
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three casesManu Jamwal, Anu Aggarwal, Verinder Kumar, et al.
Pageof 7