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Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II

Autor: Agrawal, Neha, Verma, Gaurav, Saxena, Deepti, Kabra, Madhulika, Gupta, Neerja, Mandal, Kausik, Moirangthem, Amita, Sheth, Jayesh, Puri, Ratna Dua, Bijarnia-Mahay, Sunita, Kapoor, Seema, Danda, Sumita, H, Sankar V., Datar, Chaitanya A., Ranganath, Prajnya, Shukla, Anju, Dalal, Ashwin, Srivastava, Priyanka, Devi, Radha Rama, Phadke, Shubha R.

Publikováno v: In European Journal of Medical Genetics March 2022 65(3)

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting.

Autor: Dwivedi, Aradhana¹ (AUTHOR), Moirangthem, Amita² (AUTHOR), Pandey, Himani² (AUTHOR), Sharma, Pankaj² (AUTHOR), Srivastava, Priyanka³ (AUTHOR), Yadav, Prabhaker⁴ (AUTHOR), Saxena, Deepti² (AUTHOR), Phadke, Shubha² (AUTHOR), Dabadghao, Preeti² (AUTHOR), Gupta, Neerja⁵ (AUTHOR), Kabra, Madhulika⁵ (AUTHOR), Goyal, Rekha⁶ (AUTHOR), Biswas, Rituparna⁷ (AUTHOR), Mangaraj, Swayamsidha⁸ (AUTHOR), Bhar, Debarati⁹ (AUTHOR), Chowdhury, Subhankar⁹ (AUTHOR), Agarwal, Amit² (AUTHOR), Mandal, Kausik² (AUTHOR) mandal.kausik@gmail.com

Publikováno v: Egyptian Journal of Medical Human Genetics. 8/23/2022, Issue 1, p1-9. 9p.

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Homozygous Intragenic Deletion in WDR62in Siblings with Primary Microcephaly

Autor: Singh, Suzena M., Maurya, Rajesh K., Moirangthem, Amita

Publikováno v: Molecular Syndromology; 20240101, Issue: Preprints p1-5, 5p