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1.
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Ann Hematol
; 102(5): 1029-1036, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36892591
2.
Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.
Hum Mutat
; 41(4): 737-748, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31898843
3.
Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.
Mol Biol Rep
; 45(6): 2733-2739, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30105552
4.
Genetic Variations in Bilirubin Metabolism Genes and Their Association with Unconjugated Hyperbilirubinemia in Adults.
Ann Hum Genet
; 81(1): 11-19, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27943244
5.
Does novel P5'N-1 mutation in combination with G6PD Asahi in an Indian male contribute to Budd Chiari Syndrome?
Blood Cells Mol Dis
; 66: 8-10, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28756180
6.
Do UGT1A1 and HMOX1 gene promoter polymorphisms increase the risk of hyperbilirubinemia and gallstones in patients with hereditary spherocytosis?
Ann Hematol
; 94(1): 169-71, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24947795
7.
Prevalence and spectrum of mutations causing G6PD deficiency in Indian populations.
Infect Genet Evol
; 86: 104597, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33069889
8.
Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p.Ala337Thr) novel mutation in GPI gene in two Indian patients.
J Clin Pathol
; 72(1): 81-85, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30337328
9.
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Indian J Pediatr
; 86(8): 692-699, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31030358
10.
Novel mutation (R192C) in CYB5R3 gene causing NADH-cytochrome b5 reductase deficiency in eight Indian patients associated with autosomal recessive congenital methemoglobinemia type-I.
Hematology
; 23(8): 567-573, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-29482478
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