Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Chaitanya a, Datar"'
Publikováno v:
Journal of Neonatology. :097321792211429
Terminal deletions of chromosome 6q are rare. The clinical findings are variable and most often include growth restriction, craniofacial anomalies, dysmorphism, microcephaly, cardiac anomalies, genitourinary anomalies, seizures, and tone abnormalitie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b897a9abbe7808633a50b7f6fc5b8921
https://doi.org/10.1177/09732179221142943
https://doi.org/10.1177/09732179221142943
Autor:
Neha Agrawal, Gaurav Verma, Deepti Saxena, Madhulika Kabra, Neerja Gupta, Kausik Mandal, Amita Moirangthem, Jayesh Sheth, Ratna Dua Puri, Sunita Bijarnia-Mahay, Seema Kapoor, Sumita Danda, Sankar V. H, Chaitanya A. Datar, Prajnya Ranganath, Anju Shukla, Ashwin Dalal, Priyanka Srivastava, Radha Rama Devi, Shubha R. Phadke
Publikováno v:
European journal of medical genetics. 65(3)
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. In this study, we explored the clinical and molecular spectrum of 144 Indian patients with MPS II from 130 unrelated families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768e55818cd1033cf321431a5238116c
https://pubmed.ncbi.nlm.nih.gov/35144014
https://pubmed.ncbi.nlm.nih.gov/35144014
Autor:
Sudhakar, Digumarthi V.S., Jaishankar, Shveta, Regur, Phanindranath, Kumar, Umesh, Singh, Raghvendra, Kabilan, Usha, Namduri, Sree, Dhyani, Jaishree, Gupta, Nalini J., Chakravarthy, Baidyanath, Vaman, Khadilkar, Shabir, Iram, Khadgawat, Rajesh, Deenadayal, Mamata, Chaitanya a, Datar, Dada, Rima, Sharma, Yogendra, anand, anuranjan, Thangaraj, Kumarasamy
Publikováno v:
Sexual Development; 2019, Vol. 13 Issue 4, p178-186, 9p