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Seema Thakur

Fortis Healthcare

14

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129

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Parental balanced chromosomal rearrangement leading to major genomic imbalance and an autosomal trisomy resulting in consecutive pregnancy loss: a case report.

2021 Journal of Genetics
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Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease

2020 Journal of pediatric genetics
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Fetal pulmonary choristoma: report of first case and literature review

2020 Case Reports in Perinatal Medicine
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Brief Report: Novel Genetic, Clinical and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

2016 Human Mutation
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Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia

2016 Human Mutation
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Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

2016 Indian Journal of Medical Research
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Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

2016 Genetic Testing and Molecular Biomarkers
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Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

2013 Proceedings of the National Academy of Sciences of the United States of America
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Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

2011 Journal of clinical and experimental hepatology
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ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)

2011 Indian Journal of Medical Research
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