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Seema Thakur

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
2017 · John J Reynolds, Louise S Bicknell, et al. · Nature Genetics · 124
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Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
2013 · Christian Beetz, Adam Johnson, et al. · Proceedings of the National Academy of Sciences · 106
Lymphocyte immunotherapy and its probable mechanism in the maintenance of pregnancy in women with recurrent spontaneous abortion
2004 · Manoj Kumar Pandey, Seema Thakur, et al. · Archives of Gynecology and Obstetrics · 104
Identification of Specific miRNA Signature in Paired Sera and Tissue Samples of Indian Women with Triple Negative Breast Cancer
2016 · Seema Thakur, Rajesh K. Grover, et al. · PLoS ONE · 82
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Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
2018 · E Salzano, SE Raible, et al. · American Journal of Medical Genetics Part A · 28
Fetal renal anomaly: Factors that predict survival
2014 · M. Kumar, S. Thakur, et al. · Journal of Pediatric Urology · 26
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia
2016 · Gaurav V. Harlalka, Meriel E. McEntagart, et al. · Human Mutation · 25
Pallister‐Killian syndrome: Review of fetal phenotype
2018 · S. Thakur, R. Gupta, et al. · Clinical Genetics · 22
Case Reports
2011 · Seema Kapoor, Sharmila Banerjee Mukherjee, et al. · Indian Pediatrics · 21
Perinatal outcome of pregnancies complicated by threatened abortion.
1994 · S K Verma, H K Premi, et al. · PubMed · 20
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes
2016 · Deepti Gupta, Sunita Bijarnia-Mahay, et al. · Genetic Testing and Molecular Biomarkers · 19
Spectrum of holoprosencephaly
2004 · Seema Thakur, Renu Singh, et al. · The Indian Journal of Pediatrics · 17
Prenatal diagnosis of iniencephaly and alobar holoprosencephaly with trisomy 13 mosaicism: a case report
2002 · Shubha R. Phadke, Seema Thakur · Prenatal Diagnosis · 17
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
2013 · Chiara Migliore, Emmanouil Athanasakis, et al. · European Journal of Medical Genetics · 14
A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum
2011 · Meena Lall, Seema Thakur, et al. · Molecular Cytogenetics · 12
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Kikuchi Fujimoto Disease and Post–SARS-COVID-19 Association
2022 · Arvind Kumar, Vani Aggarwal, et al. · The Indian Journal of Pediatrics · 10
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Utility of molecular studies in incontinentia pigmenti patients.
2011 · Seema Thakur, Ratna D Puri, et al. · PubMed Central · 10
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Lethal arthrogryposis with icthyosis: overlap with Neu???Laxova syndrome, restrictive dermopathy and harlequin fetus
2004 · Seema Thakur, Lily Pal, et al. · Clinical Dysmorphology · 10
Spectrum of fetal limb anomalies
2022 · Seema Thakur, Vandana Chaddha, et al. · Journal of Clinical Ultrasound · 9
Report of Two Novel Mutations in Indian Patients with Rothmund–Thomson Syndrome
2019 · Sakshi Yadav, Seema Thakur, et al. · Journal of Pediatric Genetics · 9
Revisiting absent nasal bone in the second trimester
2020 · Chanchal Singh, Seema Thakur, et al. · Journal of Clinical Ultrasound · 8
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia
2016 · Habib Bouazzi, Seema Thakur, et al. · The Indian Journal of Medical Research · 8
Prenatal sonographic evaluation and postnatal outcome of renal anomalies
2012 · Manisha Kumar, Seema Thakur, et al. · Indian journal of human genetics · 8
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Mutation Analysis in Crigler-Najjar Syndrome Type II—Case Report and Literature Review
2011 · Piyush Ranjan, Sudha Kohli, et al. · Journal of Clinical and Experimental Hepatology · 8
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Isolated Fetal Ascites: Etiology and Prognosis – A 10-Year Experience from a Tertiary Referral Care Center in India
2021 · Aanchal Sablok, Akshatha Sharma, et al. · Journal of Indian Association of Pediatric Surgeons · 7
Works count: 71
Citation count: 771
H-index: 14
I10-index: 18
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