Iranian Journal of Neonatology
مجله نوزادان ایران
IJN
Medical Sciences
https://ijn.mums.ac.ir/
0
2251-7510
2322-2158
en
jalali
0
0
1
gregorian
2026
7
1
17
3
online
1
fulltext
en
A Rare Case of Antenatally Diagnosed Tay-Sachs Disease
گزارش موارد نادر
Case Report
&beta, -hexosaminidase A, Frameshift mutation, Sanger sequencing, Tay-Sachs disease, Whole-exome sequencing
55
58
https://ijn.mums.ac.ir/article_27859.html
Sonal
Gupta
shri.sai.sono@gmail.com
122479
No
Shri Sai Sonography and Fetal Medicine Centre, Gondia 441601, Maharashtra, India
Devi
Lal
devilal@ramjas.du.ac.in
122480
No
Department of Zoology, Ramjas College, University of Delhi, Delhi 110007, India
Juhi
Bhalotia
dr.puri.juhi@gmail.com
122481
No
United Hospital, Gondia 441601, Maharashtra, India
O.P.
Gupta
gomprakash789@gmail.com
122482
No
Shri Sai Sonography and Fetal Medicine Centre, Gondia 441601, Maharashtra, India
Himani
Pandey
pandeyhimani86@gmail.com
122483
Yes
Redcliffe Labs, Electronic City, Noida 201301, India