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Indian Journal of Pediatrics|October 7, 2023
Next-Generation Sequencing in Unexplained Intellectual DisabilitySapna Sandal, Ishwar Chander Verma, Sunita Bijarnia Mahay, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|August 2, 2008
Carbimazole embryopathy-bilateral choanal atresia and patent vitello-intestinal duct: a case report and review of literatureLakshminarayanan Kannan, Satish Mishra, Ramesh Agarwal, et al.Annals of Human Genetics|March 3, 2021
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrumAlec Reginald Errol Correa, Mounika Endrakanti, Kamal Naini, et al.American Journal of Medical Genetics. Part A|November 20, 2021
First case report of Penttinen syndrome from IndiaBhawana Aggarwal, Alec R E Correa, Neerja Gupta, et al.Journal of Pediatric Genetics|August 14, 2019
Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson SyndromeSakshi Yadav, Seema Thakur, Juergen Kohlhase, et al.Annals of Indian Academy of Neurology|August 30, 2016
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North IndiaSheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|December 11, 2012
Schwartz Jampel syndrome in childrenRavindra Arya, Suvasini Sharma, Neerja Gupta, et al.American Journal of Medical Genetics. Part A|May 21, 2020
Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from IndiaRavneet Kaur, Ishrat Siddiqui, Vijay Mathur, et al.Clinical Genetics|July 8, 2026
Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian PatientsNitika Langeh, Reddipalli Sharath, Mohammed Tahir Ansari, et al.Indian Journal of Pediatrics|July 7, 2023
Clinical and Molecular Spectrum of Patients with Methylmalonic AcidemiaNeerja Gupta, Mounika Endrakanti, Meenakshi Bhat, et al.Pageof 20