Arama Sonuçları - Ratna Dua Puri
- Gösterilen 1 - 7 sonuçlar arası kayıtlar. 7
-
1
Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency Yazar: Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma
Baskı/Yayın Bilgisi 2022Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap -
2
Unclassified sudden infant death due to congenital long QT syndrome with TRPM4 mutation Yazar: Jasleen Kaur, Ratna Dua Puri, Sharmila B Mukherjee, Bijal Vyas
Baskı/Yayın Bilgisi 2021Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap -
3
Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation Yazar: Veronica Arora, Sunita Bijarnia-Mahay, Samarth Kulshreshtra, Kanika Singh, Ratna Dua Puri, Ishwar Chandar Verma
Baskı/Yayın Bilgisi 2019Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap -
4
Mutation-proved Clouston syndrome in a large Indian family with a variant phenotype Yazar: Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma
Baskı/Yayın Bilgisi 2019Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap -
5
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study Yazar: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma
Baskı/Yayın Bilgisi 2020Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap -
6
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Yazar: Domenica Taruscio, Marco Salvatore, Aimè Lumaka, Aimè Lumaka, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Savino Sciascia, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada
Baskı/Yayın Bilgisi 2023Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap -
7
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Yazar: Savino Sciascia, Dario Roccatello, Marco Salvatore, Claudio Carta, Laura L. Cellai, Gianluca Ferrari, Aimè Lumaka, Aimè Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Ratna Dua Puri, Vanessa I. Romero, Vinod Scaria, Saumya S. Jamuar, Saumya S. Jamuar, Vorasuk Shotelersuk, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio
Baskı/Yayın Bilgisi 2023Yer Numarası: Yüklüyor…Connect to this object online.
Bulunduğu Yer: Yüklüyor…
Kitap