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

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

por Narayanan, Dhanya Lakshmi, Udyawar, Divya, Kaur, Parneet, Sharma, Suvasini, Suresh, Narayanaswamy, Nampoothiri, Sheela, do Rosario, Michelle C., Somashekar, Puneeth H., Rao, Lakshmi Priya, Kausthubham, Neethukrishna, Majethia, Purvi, Pande, Shruti, Ramesh Bhat, Y., Shrikiran, Aroor, Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju
Publicado 2021