Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

por Bijarnia‐Mahay, Sunita, Jain, Vivek, Thöny, Beat
Publicado 2020

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing

por Gupta, Neerja, Verma, Gaurav, Kabra, Madhulika, Bijarnia-Mahay, Sunita, Ganapathy, Aparna
Publicado 2018

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

por Bijarnia-Mahay, Sunita, Roy, Gaurav, Padiath, Quasar S., Saxena, Renu, Verma, Ishwar Chander
Publicado 2021

Challenges in Chronic Genetic Disorders: Lessons From the COVID-19 Pandemic

por Pal, Swasti, Bhatia, Sameer, Bijarnia-Mahay, Sunita, Verma, Ishwar C, Puri, Ratna Dua
Publicado 2021

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

por Arora, Veronica, Bijarnia-Mahay, Sunita, Kulshreshtra, Samarth, Singh, Kanika, Puri, Ratna Dua, Verma, Ishwar Chandar
Publicado 2019

Growth and Neurodevelopmental Disorder with Arthrogryposis, Microcephaly and Structural Brain Anomalies Caused by Bi-allelic Partial Deletion of SMPD4 gene

por Bijarnia-Mahay, Sunita, Somashekar, Puneeth H, Kaur, Parneet, Kulshreshtha, Samarth, Ramprasad, Vedam L, Murugan, Sakthivel, Sud, Seema, Shukla, Anju
Publicado 2022

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

por Bajracharya, Luna, Lall, Meena, Bijarnia-Mahay, Sunita, Kumar, Praveen, Mushtaq, Imran, Saviour, Pushpa, Paliwal, Preeti, Joshi, Anju, Agarwal, Shruti, Suman, Praveen
Publicado 2023

Hypervitaminosis D and Acute Interstitial Nephritis: Tale of Injections

por Tiwari, Vaibhav, Arora, Veronica, Rajput, Jitendra, Gupta, Anurag, Divyaveer, Smita, Bijarnia-Mahay, Sunita, Gupta, Pallav, Bhargava, Vinant, Malik, Manish, Gupta, Ashwani, Bhalla, Anil Kumar, Rana, D. S.
Publicado 2022

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

por Singh, Kanika, Bijarnia-Mahay, Sunita, Ramprasad, V. L., Puri, Ratna Dua, Nair, Sandhya, Sharda, Sheetal, Saxena, Renu, Kohli, Sudha, Kulshreshtha, Samarth, Ganguli, Indrani, Gujral, Kanwal, Verma, Ishwar C.
Publicado 2020

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

por Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke, Yamaguchi, Seiji, Saxena, Renu, Verma, Ishwar C.
Publicado 2018

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn...

por Shibata, Naoaki, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Purevsuren, Jamiyan, Yang, Yanling, Dung, Vu Chi, Khanh, Nguyen Ngoc, Verma, Ishwar C., Bijarnia-Mahay, Sunita, Lee, Dong Hwan, Niu, Dau-Ming, Hoffmann, Georg F., Shigematsu, Yosuke, Fukao, Toshiyuki, Fukuda, Seiji, Taketani, Takeshi, Yamaguchi, Seiji
Publicado 2018

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

por Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi, Akella, Jagadeesh, Sujatha, Danda, Sumita, Sylaja, Padmavathy Narayana, Mandal, Kausik, Bijarnia‐Mahay, Sunita, Makkar, Ravinder, Verma, Ishwar Chander, Dalal, Ashwin, Ramaswami, Uma
Publicado 2020