S. Bajaj

发表

Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and Possibility of Coexisting Bethlem Myopathy in a Neonate

Venu Seenappa, D. Hingwala, P. Shah, 2021, Journal of Pediatric Neurology.

Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate

Vaibhav Barot, S. Bajaj, Amit Vatkar, 2022, Journal of Child Science.

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

K. Girisha, A. Shukla, S. Nampoothiri, 2018, Clinical genetics.

CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report

G. Schuierer, P. Peters, G. Kurlemann, 1996, Neuroradiology.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

K. Girisha, A. Shukla, H. Shah, 2021, Clinical genetics.

Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome

K. Girisha, A. Shukla, D. Narayanan, 2020, American journal of medical genetics. Part A.

An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report

F. Sheth, J. Sheth, H. Sheth, 2022, BMC Pediatrics.

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report

F. Nabi, H. Sheth, S. Bajaj, 2021, BMC Pediatrics.

Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting

Mihir Kothari, S. Bajaj, Mathangi Venkatraman, 2022, Indian journal of ophthalmology.

Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1

J. Häberle, V. Rüfenacht, A. Jalan, 2020, Journal of Fetal Medicine.

Lysosomal Storage Disorders: An Underdiagnosed Metabolic Disorder

J. Sheth, S. Magar, S. Bajaj, 2020 .

Antithyroid arthritis syndrome.

S. Shumak, M. Bell, S. Bajaj, 1998, The Journal of rheumatology.

Dopa-Responsive Dystonia: An Early Presentation of Ataxia-Telangiectasia

N. Rathod, A. Arora, A. Hegde, 2022, Annals of Indian Academy of Neurology.

Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype–Phenotype Review of Reported Patients

Venu Seenappa, V. Joshi, Shailee Shah, 2021, Journal of Pediatric Neurology.

Posterior Circulation Stroke due to Atlantoaxial Instability in CHST3-Related Skeletal Dysplasia: A Case Report.

T. Agarwal, Kshitij Chaudhary, S. Garg, 2021, JBJS Case Connector.

An Indian Child with CONDSIAS Due to a Novel Variant in ADPRHL2 Gene

Venu Seenappa, D. Hingwala, Amit Shah, 2022, Annals of Indian Academy of Neurology.

A Variant in SLC25A4 Leads to Mitochondrial DNA-Depletion Syndrome-12A Causing Neonatal Hypotonia and Hypoventilation

S. Bajaj, Sonal Mirani, K. P. Sanghvi, 2021, Journal of Pediatric Neurology.

Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

F. Sheth, J. Sheth, H. Sheth, 2023, BMC Neurology.

“FISHed” out the diagnosis: A case of DiGeorge syndrome

M. Tullu, M. Agrawal, S. Bajaj, 2016, Journal of postgraduate medicine.