Infant death resulting from sharing a cot with a 10-year-old boy by Behera, C, Chauhan, M, Bijarnia, M

Get full text

Protein Kinase C Inhibitor Sotrastaurin in De Novo Liver Transplant Recipients: A Randomized Phase II Trial by Pascher, A., De Simone, P., Pratschke, J., Salamé, E., Pirenne, J., Isoneimi, H., Bijarnia, M., Krishnan, I., Klupp, J.

Get full text

Mutagenicity assessment of effluents from textile/dye industries of Sanganer, Jaipur (India): a case study by Mathur, Nupur, Bhatnagar, Pradeep, Nagar, Pankaj, Bijarnia, Mahendra Kumar

Get full text

Power relations and institutional outcomes: A case of pastureland development in Semi-arid Rajasthan by Ray, Sunil, Bijarnia, Mahendra

Get full text

Mutagenicity evaluation of industrial sludge from common effluent treatment plant by Mathur, Nupur, Bhatnagar, Pradeep, Mohan, Krishna, Bakre, Prakash, Nagar, Pankaj, Bijarnia, Mahendra

Get full text

Identification of a Novel Gene Mutation in a Family With X-Linked Dilated Cardiomyopathy Barth Syndrome by Minal Borkar PhD, Sunita Bijarnia-Mahay DCH, DNB, MD, Sudha Kohli PhD, Monica Juneja MD, Yogesh Srivastava M.Sc, Renu Saxena PhD, Ishwar C. Verma FRCP

Get full text

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians by Kausthubham, Neethukrishna, Shukla, Anju, Gupta, Neerja, Bhavani, Gandham S., Kulshrestha, Samarth, Das Bhowmik, Aneek, Moirangthem, Amita, Bijarnia‐Mahay, Sunita, Kabra, Madhulika, Puri, Ratna D., Mandal, Kausik, Verma, Ishwar C., Bielas, Stephanie L., Phadke, Shubha R., Dalal, Ashwin, Girisha, Katta M.

Get full text

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency by Deshpande, Dipti, Gupta, Shailesh Kumar, Sarma, Asodu Sandeep, Ranganath, Prajnya, Jain S., Jamal Md Nurul, Sheth, Jayesh, Mistri, Mehul, Gupta, Neerja, Kabra, Madhulika, Phadke, Shubha R., Girisha, Katta M., Dua Puri, Ratna, Aggarwal, Shagun, Datar, Chaitanya, Mandal, Kausik, Tilak, Preetha, Muranjan, Mamta, Bijarnia‐Mahay, Sunita, Rama Devi A., Radha, Tayade, Naresh B., Ranjan, Akash, Dalal, Ashwin B.

Get full text

Novel and recurrent mutations in WISP3 and an atypical phenotype by Bhavani, Gandham SriLakshmi, Shah, Hitesh, Dalal, Ashwin B., Shukla, Anju, Danda, Sumita, Aggarwal, Shagun, Phadke, Shubha R., Gupta, Neerja, Kabra, Madhulika, Gowrishankar, Kalpana, Gupta, Anju, Bhat, Meenakshi, Puri, Ratna D., Bijarnia-Mahay, Sunita, Nampoothiri, Sheela, Mohanasundaram, Kavitha M., Rajeswari, S., Kulkarni, Akhil M., Kulkarni, Muralidhar L., Ranganath, Prajnya, Ramadevi, A. Radha, Hariharan, Sankar V., Girisha, Katta Mohan

Get full text

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance by Dallabona, Cristina, Abbink, Truus E M, Carrozzo, Rosalba, Torraco, Alessandra, Legati, Andrea, van Berkel, Carola G M, Niceta, Marcello, Langella, Tiziana, Verrigni, Daniela, Rizza, Teresa, Diodato, Daria, Piemonte, Fiorella, Lamantea, Eleonora, Fang, Mingyan, Zhang, Jianguo, Martinelli, Diego, Bevivino, Elsa, Dionisi-Vici, Carlo, Vanderver, Adeline, Philip, Sunny G, Kurian, Manju A, Verma, Ishwar C, Bijarnia-Mahay, Sunita, Jacinto, Sandra, Furtado, Fatima, Accorsi, Patrizia, Ardissone, Anna, Moroni, Isabella, Ferrero, Ileana, Tartaglia, Marco, Goffrini, Paola, Ghezzi, Daniele, van der Knaap, Marjo S, Bertini, Enrico

Get full text

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.

Get full text

A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians by Kausthubham, Neethukrishna, Shukla, Anju, Gupta, Neerja, Bhavani, Gandham SriLakshmi, Kulshrestha, Samarth, Das Bhowmik, Aneek, Moirangthem, Amita, Bijarnia-Mahay, Sunita, Kabra, Madhulika, Puri, Ratna Dua, Mandal, Kausik, Verma, Ishwar C, Bielas, Stephanie L, Phadke, Shubha R, Dalal, Ashwin, Girisha, Katta M

Get full text

EXPERIMENTAL PATHOLOGY by Vethe, H., Finne, K., Skogstrand, T., Vaudel, M., Vikse, B. E., Hultstrom, M., Placier, S., Scherer, A., Milanesi, S., Rocca, C., Gregorini, M., Corradetti, V., Pattonieri, E. F., Cannone, M., Maggi, N., Bosio, F., Bianco, C., Benzoni, I., Maestri, M., Kadoya, H., Satoh, M., Kashihara, N., Thongboonkerd, V., Hsu, H.-H., Chen, K.-H., Chen, Y.-C., Hung, C.-C., Yang, C.-W., Iyoda, M., Wada, Y., Shindo-Hirai, Y., Da Silva, A. F., Teixeira, V. C., Naves, M. A., Visiona, I., Teixeira, V. P., Lengyel, C., Varkonyi, T., Ivanyi, B., Keresztes, C., Lazar, G., Edamatsu, T., Fujieda, A., Ezawa, A., Itoh, Y., Detsika, M. G., Duann, P., Almeida, W. S., Wagner, S., Schnorr, J., Glaser, J., Gemeinhardt, I., Ebert, M., Klopfleisch, R., Taupitz, M., Frangou, E. A., Rizou, M., Zoidakis, J., Liapis, G., Charonis, A., Parastaeva, M., Beresneva, O., Ivanova, G., Kucher, A., Smirnov, A., Chandak, P. G., Sipovski, V., Sipovski, E., Dobronravov, V., Masola, V., Zaza, G., Kim, J. I., Jang, H.-S., Han, S. J., Park, K. M., Paterno, J. C., Ramos, M. D. F. P., Razvickas, C. V., Rehder, V. L., Raya, A. I., Pineda, C. M., Guerrero, F., Rios, R., Aguilera, E., Peralta, A., Inoue, T., Hayashi, M., Suzuki, H., Garrido, P., Fernandes, J., Ribeiro, S., Costa, E., Reis, F., Shi, Y., Tsuboi, N., Maruyama, S., Matsuo, S., Piecha, D., Steppan, S., Loser, K.

Get full text

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India by Sachdeva, Anupam, Jain, Prachi, Gunasekaran, Vinod, Mahay, Sunita Bijarnia, Mukherjee, Sharmila, Hagerman, Randi, Shankar, Suma, Kapoor, Seema, Kedia, Shalini N

Get full text

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders by Verma, Jyotsna, Thomas, Divya C., Kasper, David C., Sharma, Sandeepika, Puri, Ratna D., Bijarnia-Mahay, Sunita, Mistry, Pramod K., Verma, Ishwar C.

Get full text

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India by Bijarnia-Mahay, Sunita, Movva, Sireesha, Gupta, Neerja, Sharma, Deepak, Puri, Ratna D., Kotecha, Udhaya, Saxena, Renu, Kabra, Madhulika, Mohan, Neelam, Verma, Ishwar C

Get full text

Tuberous sclerosis complex by SURYAVANSHI, N. M, KASHYAPE, S. S, KASHYAPE, Pawan, PHALKE, Vijay

Get full text