Pratibha Bhai

Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

Pratibha Bhai, Sunita Bijarnia‐Mahay, Ratna Dua Puri et al. · Annals of Human Genetics · 2018 · 22 citations

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases

Kanika Singh, Ratna Dua Puri, Pratibha Bhai et al. · Journal of Pediatric Endocrinology and Metabolism · 2018 · 16 citations · Full text

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai et al. · International Journal of Molecular Sciences · 2022 · 15 citations · Full text

Clinical Features and Long-Term Outcomes of a Pan-Canadian Cohort of Adolescents and Young Adults with Myeloproliferative Neoplasms: A Canadian MPN Group Study

James T. England, Natasha Szuber, Shireen Sirhan et al. · Leukemia · 2024 · 14 citations

Hematological Malignancy, Medicine, Hematology +7

The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

Veronica Arora, Ratna Dua Puri, Pratibha Bhai et al. · American Journal of Medical Genetics Part A · 2019 · 13 citations