Past, present & future scenario of thalassaemic care & control in India

por Verma, Ishwar C., Saxena, Renu, Kohli, Sudha
Publicado 2011

The Indian Journal of Pediatrics: A Journey of Nine Decades

por Lodha, Rakesh, Kabra, Sushil K, Verma, Ishwar C.
Publicado 2022

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers

por Nahar, Risha, Saxena, Renu, Deb, Roumi, Verma, Ishwar C.
Publicado 2012

Relationship Between Morphology, Euploidy and Implantation Potential of Cleavage and Blastocyst Stage Embryos

por Majumdar, Gaurav, Majumdar, Abha, Verma, Ishwar C., Upadhyaya, Kailash C.
Publicado 2017

Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in...

por Majumdar, Gaurav, Majumdar, Abha, Lall, Meena, Verma, Ishwar C., Upadhyaya, Kailash C.
Publicado 2016

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

Mutation–Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype

por Khatter, Sangeeta, Puri, Ratna Dua, Mahay, Sunita Bijarnia, Bhai, Pratibha, Saxena, Renu, Verma, Ishwar C
Publicado 2019

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes

por Vyas, Bijal, Puri, Ratna D., Namboodiri, Narayanan, Saxena, Renu, Nair, Mohan, Balakrishnan, Prahlad, Jayakrishnan, M.P., Udyavar, Ameya, Kishore, Ravi, Verma, Ishwar C.
Publicado 2016

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

por Arora, Veronica, Setia, Nitika, Dalal, Ashwin, Vanaja, Maria Celestina, Gupta, Deepti, Razdan, Tinku, Phadke, Shubha R., Saxena, Renu, Rohtagi, Anshu, Verma, Ishwar C., Puri, Ratna Dua
Publicado 2020

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

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

por Uttarilli, Anusha, Ranganath, Prajnya, Jain, S. Jamal Md Nurul, Krishna, Prasad C., Sinha, Anupam, Verma, Ishwar C., Phadke, Shubha R., Puri, Ratna D., Danda, Sumita, Muranjan, Mamta N., Jevalikar, Ganesh, Nagarajaram, H. A., Dalal, Ashwin B.
Publicado 2015

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

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

por Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H. C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita
Publicado 2019

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla...

por Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine
Publicado 2015