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American Journal of Medical Genetics. Part A
|
March 18, 2025
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India
Soumalya Chakraborty, Amita Singh, Shama Perveen, et al.
Gene
|
September 10, 2015
Chanarin Dorfman syndrome: a case report with novel nonsense mutation
Neerja Gupta, Sunil Gothwal, Amit Kumar Satpathy, et al.
Indian Pediatrics
|
April 1, 2016
ADRB2 Polymorphism and Salbutamol Responsiveness in Northern Indian Children with Mild to Moderate Exacerbation of Asthma
Puneet Kaur Sahi, Shivaram Shastri, Rakesh Lodha, et al.
Journal of Child Neurology
|
May 2, 2009
Three novel variants in X-linked adrenoleukodystrophy
Pallavi Shukla, Neerja Gupta, Madhulika Kabra, et al.
Clinical Dysmorphology
|
May 11, 2010
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent
Gurpreet Singh Kochar, Anita Choudhary, Ankur Gadodia, et al.
The National Medical Journal of India
|
May 13, 2011
Aetiology of global developmental delay in young children: experience from a tertiary care centre in India
Anurag Tikaria, Madhulika Kabra, Neerja Gupta, et al.
European Journal of Medical Genetics
|
August 18, 2023
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
Neerja Gupta, Soumalya Chakraborty, Madhumita Roy Chowdhury, et al.
BMC Pediatrics
|
April 6, 2018
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report
Vishal V Tewari, Ritu Mehta, C M Sreedhar, et al.
The Indian Journal of Medical Research
|
September 2, 2017
Identification of a novel homozygous mutation in transmembrane channel like 1 (<i>TMC1</i>) gene, one of the second-tier hearing loss genes after <i>GJB2</i> in India
Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2026
Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene
Ravneet Kaur, Madhumita Roy Chowdhury, Sandeepa Chauhan, et al.
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Search research articles
Search
Showing results (141-150 of 238) with videos related to
Sort By:
Page
of 24
American Journal of Medical Genetics. Part A
|
March 18, 2025
Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India
Soumalya Chakraborty, Amita Singh, Shama Perveen, et al.
Gene
|
September 10, 2015
Chanarin Dorfman syndrome: a case report with novel nonsense mutation
Neerja Gupta, Sunil Gothwal, Amit Kumar Satpathy, et al.
Indian Pediatrics
|
April 1, 2016
ADRB2 Polymorphism and Salbutamol Responsiveness in Northern Indian Children with Mild to Moderate Exacerbation of Asthma
Puneet Kaur Sahi, Shivaram Shastri, Rakesh Lodha, et al.
Journal of Child Neurology
|
May 2, 2009
Three novel variants in X-linked adrenoleukodystrophy
Pallavi Shukla, Neerja Gupta, Madhulika Kabra, et al.
Clinical Dysmorphology
|
May 11, 2010
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent
Gurpreet Singh Kochar, Anita Choudhary, Ankur Gadodia, et al.
The National Medical Journal of India
|
May 13, 2011
Aetiology of global developmental delay in young children: experience from a tertiary care centre in India
Anurag Tikaria, Madhulika Kabra, Neerja Gupta, et al.
European Journal of Medical Genetics
|
August 18, 2023
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
Neerja Gupta, Soumalya Chakraborty, Madhumita Roy Chowdhury, et al.
BMC Pediatrics
|
April 6, 2018
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report
Vishal V Tewari, Ritu Mehta, C M Sreedhar, et al.
The Indian Journal of Medical Research
|
September 2, 2017
Identification of a novel homozygous mutation in transmembrane channel like 1 (<i>TMC1</i>) gene, one of the second-tier hearing loss genes after <i>GJB2</i> in India
Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2026
Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene
Ravneet Kaur, Madhumita Roy Chowdhury, Sandeepa Chauhan, et al.
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of 24