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Cytogenetic and Genome Research|September 10, 2015
Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in IndiaPankaj Sharma, Neerja Gupta, Madhumita R Chowdhury, et al.
Prenatal Diagnosis|July 24, 2021
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalisAlec Reginald Errol Correa, Kamal Naini, Pallavi Mishra, et al.
Neurology India|March 10, 2015
Prevalence of UGT1A6 polymorphisms in children with epilepsy on valproate monotherapyPuneet Jain, Shivaram Shastri, Sheffali Gulati, et al.
Fetal Diagnosis and Therapy|July 31, 2026
Posterior Fossa Anomalies: A Detailed Review of Prenatal Findings and Management from a tertiary care centreTanisha Gupta, K Aparna Sharma, Vatsla Dadhwal, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 6, 2011
Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophyPallavi Shukla, Neerja Gupta, Sheffali Gulati, et al.
The Indian Journal of Medical Research|June 23, 2017
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in IndiaSudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, et al.
Pediatric Neurology|January 3, 2021
Association of Sleep Apnea With Development and Behavior in Down Syndrome: A Prospective Clinical and Polysomnographic StudyVaishakh Anand, Garima Shukla, Neerja Gupta, et al.
Indian Journal of Pediatrics|July 14, 2012
Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictorsAbdus Sami Bhat, Mona K Chaturvedi, Savita Saini, et al.
BMC Medical Genetics|October 28, 2019
Decoding of novel missense TSC2 gene variants using in-silico methodsShruthi Sudarshan, Manoj Kumar, Punit Kaur, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|September 16, 2021
Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type CJasmine Parihar, Deepa Dash, Bhawana Aggarwal, et al.
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