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Indian Journal of Pediatrics
|
July 7, 2023
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
Neerja Gupta, Mounika Endrakanti, Meenakshi Bhat, et al.
Indian Journal of Pediatrics
|
May 27, 2020
Methylene Tetrahydrofolate Reductase Deficiency
Ravneet Kaur, Alec Reginald Errol Correa, Seema Thakur, et al.
Human Genetics
|
August 21, 2009
Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy
Pallavi Shukla, Neerja Gupta, Madhulika Kabra, et al.
Journal of Child Neurology
|
April 27, 2013
Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis
Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, et al.
American Journal of Ophthalmology Case Reports
|
June 16, 2023
Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate
Brajesh Lahri, Zakir Hussain, Neerja Gupta, et al.
Indian Journal of Pediatrics
|
April 23, 2013
Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings
Kamaldeep Arora, Anu Thukral, Rashmi Ranjan Das, et al.
European Journal of Medical Genetics
|
August 18, 2019
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India
Neerja Gupta, Sakshi Yadav, Venkatesh Babu Gurramkonda, et al.
The Indian Journal of Medical Research
|
April 29, 2010
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis
Shubha R Phadke, Bjoern Fischer, Neerja Gupta, et al.
American Journal of Medical Genetics. Part A
|
March 30, 2020
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III
Shama Perveen, Neerja Gupta, Manoj Kumar, et al.
Indian Journal of Ophthalmology
|
November 15, 2017
Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
Anushree Mishra, Saranya Devi, Rohit Saxena, et al.
Page
of 24
Search research articles
Search
Showing results (81-90 of 237) with videos related to
Sort By:
Page
of 24
Indian Journal of Pediatrics
|
July 7, 2023
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
Neerja Gupta, Mounika Endrakanti, Meenakshi Bhat, et al.
Indian Journal of Pediatrics
|
May 27, 2020
Methylene Tetrahydrofolate Reductase Deficiency
Ravneet Kaur, Alec Reginald Errol Correa, Seema Thakur, et al.
Human Genetics
|
August 21, 2009
Novel human pathological mutations. Gene symbol: ABCD1. Disease: Adrenoleukodystrophy
Pallavi Shukla, Neerja Gupta, Madhulika Kabra, et al.
Journal of Child Neurology
|
April 27, 2013
Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis
Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, et al.
American Journal of Ophthalmology Case Reports
|
June 16, 2023
Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate
Brajesh Lahri, Zakir Hussain, Neerja Gupta, et al.
Indian Journal of Pediatrics
|
April 23, 2013
Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings
Kamaldeep Arora, Anu Thukral, Rashmi Ranjan Das, et al.
European Journal of Medical Genetics
|
August 18, 2019
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India
Neerja Gupta, Sakshi Yadav, Venkatesh Babu Gurramkonda, et al.
The Indian Journal of Medical Research
|
April 29, 2010
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis
Shubha R Phadke, Bjoern Fischer, Neerja Gupta, et al.
American Journal of Medical Genetics. Part A
|
March 30, 2020
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III
Shama Perveen, Neerja Gupta, Manoj Kumar, et al.
Indian Journal of Ophthalmology
|
November 15, 2017
Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
Anushree Mishra, Saranya Devi, Rohit Saxena, et al.
Page
of 24