Search Results - "Gupta, Neerja"

High Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines.

Authors: Sundaravel, Selvamanojkumar Gupta, Neerja Jain, Vandana et al.

Source: American Journal of Medical Genetics. Part A; Jul2026, Vol. 200 Issue 7, p1573-1581, 9p

Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene.

Authors: Kaur, Ravneet Chowdhury, Madhumita Roy Chauhan, Sandeepa et al.

Source: American Journal of Medical Genetics. Part A; Jun2026, Vol. 200 Issue 6, p1245-1256, 12p

Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience.

Authors: Gupta, Amit Gupta, Neerja Kabra, Madhulika et al.

Source: Indian Journal of Radiology & Imaging. 2023, Vol. 33 Issue 2, p144-149. 6p.

Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.

Authors: Chakraborty, Soumalya Singh, Amita Perveen, Shama et al.

Source: American Journal of Medical Genetics. Part A; Jul2025, Vol. 197 Issue 7, p1-6, 6p

ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.

Authors: Endrakanti, Mounika Sharma, Jyoti Ethayathulla, Abdul S. et al.

Source: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-9, 9p

Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Authors: Langeh, Nitika Ansari, Mohammed Tahir Kabra, Madhulika et al.

Source: American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-6, 6p

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.

Authors: Gupta, Neerja Verma, Gaurav Kabra, Madhulika et al.

Source: Indian Journal of Medical Research. Apr2018, Vol. 147 Issue 4, p422-426. 5p.

Long-range PCR in next generation sequencing: A low cost approach for large & complex genes.

Authors: Chowdhary, Madhumita Roy Gupta, Neerja

Source: Indian Journal of Medical Research. Jun2023, Vol. 157 Issue 6, p591-592. 2p.

The spectrum of neurological manifestations and genotype–phenotype correlation in Indian children with Gaucher disease.

Authors: Venkatachari, Mahesh Chakraborty, Soumalya Correa, Alec Reginald Errol et al.

Source: American Journal of Medical Genetics. Part A; Apr2023, Vol. 191 Issue 4, p1038-1043, 6p

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Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.

Authors: Gupta, Neerja Endrakanti, Mounika Gupta, Noopur et al.

Source: American Journal of Medical Genetics. Part A; Jul2022, Vol. 188 Issue 7, p2187-2191, 5p

Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.

Authors: Gupta, Neerja Kaur, Ravneet Phadke, Shubha et al.

Source: American Journal of Medical Genetics. Part A; Apr2022, Vol. 188 Issue 4, p1317-1322, 6p

Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India.

Authors: Chaudhary, Ajay Kumar Gholse, Aishwarya Nagarajaram, Hampapathalu Adimurthy et al.

Source: American Journal of Medical Genetics. Part A; Mar2022, Vol. 188 Issue 3, p788-805, 18p

First case report of Penttinen syndrome from India.

Authors: Aggarwal, Bhawana Correa, Alec R. E. Gupta, Neerja et al.

Source: American Journal of Medical Genetics. Part A; Feb2022, Vol. 188 Issue 2, p683-687, 5p

Limb/Pelvis-Hypoplasia/Aplasia Syndrome - Further Delineation of Phenotype.

Authors: Gupta, Neerja Kabra, Madhulika

Source: Fetal & Pediatric Pathology. Dec2011, Vol. 30 Issue 6, p355-358. 4p. 2 Color Photographs, 1 Black and White Photograph.

Mercury Volatilization by R Factor Systems in Escherichia coli Isolated from Aquatic Environments of India.

Authors: Gupta, Neerja Ali, Arif

Source: Current Microbiology. Feb2004, Vol. 48 Issue 2, p88-96. 9p.

Intersection of Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy Syndrome: ASAH1 Gene.

Authors: Mustafa, Farsana Sha, Shariq Macken, Wiliam L et al.

Source: Annals of Indian Academy of Neurology. May/Jun2026, Vol. 29 Issue 3, p455-458. 4p.

Rubinstein–Taybi syndrome in diverse populations.

Authors: Tekendo‐Ngongang, Cedrik Owosela, Babajide Fleischer, Nicole et al.

Source: American Journal of Medical Genetics. Part A; Dec2020, Vol. 182 Issue 12, p2939-2950, 12p

Approach to the diagnosis of developmental delay -- The changing scenario.

Authors: Gupta, Neerja Kabra, Madhulika

Source: Indian Journal of Medical Research. Jan2014, Vol. 139 Issue 1, p4-6. 3p.

Prenatal Diagnosis of Fetal Peters' Plus Syndrome: A Case Report.

Authors: Gupta, Neerja Kaul, Anita Kabra, Madhulika

Source: Case Reports in Genetics. 2013, p1-3. 3p.