Approach to the diagnosis of developmental delay - The changing scenario

por Gupta, Neerja, Kabra, Madhulika
Publicado 2014

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

por Chowdhary, Madhumita Roy, Gupta, Neerja
Publicado 2023

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

por Gupta, Neerja, Kaul, Anita, Kabra, Madhulika
Publicado 2013

Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases

por Halder, Ashutosh, Jain, Manish, Kabra, Madhulika, Gupta, Neerja
Publicado 2008

Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes

por Halder, Ashutosh, Jain, Manish, Chaudhary, Isha, Gupta, Neerja, Kabra, Madhulika
Publicado 2013

Pelvic radiograph in skeletal dysplasias: An approach

por Jana, Manisha, Nair, Nikhil, Gupta, Arun K, Kabra, Madhulika, Gupta, Neerja
Publicado 2017

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

por Gupta, Neerja, Verma, Gaurav, Kabra, Madhulika, Bijarnia-Mahay, Sunita, Ganapathy, Aparna
Publicado 2018

Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate

por Lahri, Brajesh, Hussain, Zakir, Gupta, Neerja, Gupta, Shikha, Singh, Abhishek, Gupta, Viney
Publicado 2023

The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

por Gulati, Sheffali, Jain, Puneet, Chakrabarty, Biswaroop, Kumar, Atin, Gupta, Neerja, Kabra, Madhulika
Publicado 2016

Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

por Mishra, Anushree, Devi, Saranya, Saxena, Rohit, Gupta, Neerja, Kabra, Madhulika, Chowdhury, Madhumita Roy
Publicado 2017

Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss

por Singh, Pawan Kumar, Sharma, Shipra, Ghosh, Manju, Shastri, Shivaram S., Gupta, Neerja, Kabra, Madhulika
Publicado 2018

The mutation spectrum in Indian patients with Gaucher disease

por Bisariya, Vartika, Mistry, Pramod K, Liu, Jun, Chaudhari, Madhumita Roy, Gupta, Neerja, Kabra, Madhulika
Publicado 2011

Menkes disease – An important cause of early onset refractory seizures

por Jain, Puneet, Kannan, Lakshminarayanan, Chakrabarty, Biswaroop, Kumar, Atin, Gupta, Neerja, Kabra, Madhulika, Gulati, Sheffali
Publicado 2014

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

por Gupta, Amit, Gupta, Neerja, Kabra, Madhulika, Kaur, Tejinder, Gabra, Pavan, Khan, Maroof A., Jana, Manisha
Publicado 2023

Spine radiograph in dysplasias: A pictorial essay

por Gabra, Pavan, Jana, Manisha, Naranje, Priyanka, Gupta, Neerja, Kabra, Madhulika, Gupta, Arun K, Yadav, Richa
Publicado 2020

Protein structure prediction for novel mutations in Arylsulfatase-A gene

por Divya, M, Jain, S Jamal Md Nurul, Phadke, SR, Kishore, Ratna, Kamate, Mahesh, Gupta, Neerja, Dalal, Ashwin
Publicado 2014

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population

por Singh, Pawan Kumar, Sharma, Shipra, Ghosh, Manju, Shastri, Shivaram S, Gupta, Neerja, Roy Chowdhury, Madhumita, Kabra, Madhulika
Publicado 2014

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

por Sharma, Pankaj, Roy Chowdhury, Madhumita, Gupta, Neerja, Shukla, Rashmi, Sudarshan, Shruthi, Ghosh, Manju, Deka, Deepika, Kabra, Madhulika
Publicado 2014

Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India

por Singh, Pawan Kumar, Ghosh, Manju, Sharma, Shipra, Shastri, Shivaram, Gupta, Neerja, Chowdhury, Madhumita Roy, Anand, Anuranjan, Kabra, Madhulika
Publicado 2017

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

por Tewari, Vishal V., Mehta, Ritu, Sreedhar, C. M., Tewari, Kunal, Mohammad, Akbar, Gupta, Neerja, Gulati, Sheffali, Kabra, Madhulika
Publicado 2018