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Clinical Dysmorphology|November 30, 2021
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variantsAmita Moirangthem, Deepti Saxena, Suzena Masih, et al.
Indian Pediatrics|July 23, 2026
Genotypic and Phenotypic Profile of Hereditary Spastic Paraplegia in Children: A Single-Centre Study from Northern IndiaNiladri Das, Arya Shambhavi, Haseena Sait, et al.
Prenatal Diagnosis|March 25, 2023
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome dataDeepti Saxena, Somya Srivastava, Rajesh K Maurya, et al.
Clinical Dysmorphology|March 4, 2017
Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndromeAmita Moirangthem, Moni Tuteja Bhatia, Priyanka Srivastava, et al.
Clinical Dysmorphology|October 11, 2018
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IVPeriyasamy Radhakrishnan, Amita Moirangthem, Shalini S Nayak, et al.
BMJ Case Reports|February 5, 2026
Bleeding from umbilicus in a neonate: exploring aetiologies of a common presentationArohi Gupta, Anita Singh, Abhishek Paul, et al.
Clinical and Experimental Pediatrics|July 13, 2026
Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variantsAmresh Kumar Mishra, Moinak Sen Sarma, Anchal Dubey, et al.
Clinical Genetics|July 12, 2025
Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in CarriersHaseena Sait, Naik Adarsha, Amita Moirangthem, et al.
Clinical Genetics|April 5, 2025
A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7Amita Moirangthem, Anjana Kar, Mahima Sagar, et al.
Asian Journal of Transfusion Science|January 26, 2024
Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients: A prospective cohort study conducted at a tertiary care center in Northern IndiaBrijesh Kumar Yadav, Rajendra K Chaudhary, Priti Elhence, et al.
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