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Ophthalmic Genetics
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October 29, 2024
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome
Brajesh Lahri, Renu Singh, Shikha Gupta, et al.
Indian Journal of Pediatrics
|
September 12, 2023
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader
Ambika Gupta, Puneeta Mishra, Madhumita Roy Chowdhury, et al.
Indian Journal of Pediatrics
|
August 19, 2021
Physical Growth and Its Determinants in Indian Children with Down Syndrome, from 3 Months to 5 Years of Age
Mandula Phani Priya, Neerja Gupta, Aditya Nagori, et al.
Reproductive Biomedicine Online
|
May 19, 2015
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations
Elie Akoury, Neerja Gupta, Rashmi Bagga, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 30, 2022
STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy
Vaishakh Anand, Bhawana Aggarwal, Prashant Jauhari, et al.
Journal of Pediatric Genetics
|
May 8, 2019
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency
Amit Kumar Satapathy, Swati Pandey, Madhumita Roy Chaudhary, et al.
Prenatal Diagnosis
|
December 28, 2006
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family
Neerja Gupta, Paola Bianchi, Elisa Fermo, et al.
Indian Journal of Pediatrics
|
May 4, 2024
The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance
Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, et al.
Journal of Human Genetics
|
December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Indian Journal of Pediatrics
|
December 18, 2015
Smith-Magenis Syndrome: Face Speaks
Rekha Gupta, Neerja Gupta, Sheela Nampoothiri, et al.
Page
of 24
Search research articles
Search
Showing results (131-140 of 238) with videos related to
Sort By:
Page
of 24
Ophthalmic Genetics
|
October 29, 2024
An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome
Brajesh Lahri, Renu Singh, Shikha Gupta, et al.
Indian Journal of Pediatrics
|
September 12, 2023
Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader
Ambika Gupta, Puneeta Mishra, Madhumita Roy Chowdhury, et al.
Indian Journal of Pediatrics
|
August 19, 2021
Physical Growth and Its Determinants in Indian Children with Down Syndrome, from 3 Months to 5 Years of Age
Mandula Phani Priya, Neerja Gupta, Aditya Nagori, et al.
Reproductive Biomedicine Online
|
May 19, 2015
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations
Elie Akoury, Neerja Gupta, Rashmi Bagga, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
June 30, 2022
STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy
Vaishakh Anand, Bhawana Aggarwal, Prashant Jauhari, et al.
Journal of Pediatric Genetics
|
May 8, 2019
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency
Amit Kumar Satapathy, Swati Pandey, Madhumita Roy Chaudhary, et al.
Prenatal Diagnosis
|
December 28, 2006
Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family
Neerja Gupta, Paola Bianchi, Elisa Fermo, et al.
Indian Journal of Pediatrics
|
May 4, 2024
The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance
Soumalya Chakraborty, Ravneet Kaur, Bijoy Patra, et al.
Journal of Human Genetics
|
December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Indian Journal of Pediatrics
|
December 18, 2015
Smith-Magenis Syndrome: Face Speaks
Rekha Gupta, Neerja Gupta, Sheela Nampoothiri, et al.
Page
of 24