Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Novel and recurrent mutations in WISP3 and an atypical phenotype
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
Published in American journal of medical genetics. Part A (01.10.2015)
Published in American journal of medical genetics. Part A (01.10.2015)
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Journal Article
Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion
Prabhakara, K., Bruno, Damien L., Padman, Priya, Prasad, Suma, Sudheer Kumar, R., Slater, Howard R., Radha Ramadevi, A.
Published in Prenatal diagnosis (01.05.2008)
Published in Prenatal diagnosis (01.05.2008)
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Journal Article
Premature centromere division versus C-anaphases in cultures: Need for consensus and guidelines
Prabhakara, K., Radha Ramadevi, A.
Published in American journal of medical genetics. Part A (30.01.2004)
Published in American journal of medical genetics. Part A (30.01.2004)
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Journal Article
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
DE MUNNIK, Sonja A, BICKNELL, Louise S, HAGEN, Johanna M.van, HENNEKAM, Raoul C, JANSWEIJER, Maaike Ce, JOHNSON, Diana, KANT, Sarina G, OPITZ, John M, RADHA RAMADEVI, A, REARDON, Willie, ROSS, Alison, SARDA, Pierre, AFTIMOS, Salim, SCHRANDER-STUMPEL, Constance Trm, SCHOOTS, Jeroen, KAREN TEMPLE, I, TERHAL, Paulien A, TOUTAIN, Annick, WISE, Carol A, WRIGHT, Michael, SKIDMORE, David L, ESAMUELS, Mark, HHOEFSLOOT, Lies, AL-AAMA, Jumana Y, VAMKNOERS, Nine, BRUNNER, Han G, JACKSON, Andrew P, BONGERS, Ernie Mhf, BEVER, Yolande Van, BOBER, Michael B, CLAYTON-SMITH, Jill, EDREES, Alaa Y, FEINGOLD, Murray, FRYER, Alan
Published in European journal of human genetics : EJHG (01.06.2012)
Published in European journal of human genetics : EJHG (01.06.2012)
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Journal Article
Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
de Munnik, Sonja A., Otten, Barto J., Schoots, Jeroen, Bicknell, Louise S., Aftimos, Salim, Al‐Aama, Jumana Y., van Bever, Yolande, Bober, Michael B., Borm, George F., Clayton‐Smith, Jill, Deal, Cheri L., Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, van Hagen, Johanna M., Hennekam, Raoul C., Jansweijer, Maaike C.E., Johnson, Diana, Kant, Sarina G., Opitz, John M., Ramadevi, A. Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander‐Stumpel, Constance T.R.M., Sluiter, A. Erik, Temple, I. Karen, Terhal, Paulien A., Toutain, Annick, Wise, Carol A., Wright, Michael, Skidmore, David L., Samuels, Mark E., Hoefsloot, Lies H., Knoers, Nine V.A.M., Brunner, Han G., Jackson, Andrew P., Bongers, Ernie M.H.F.
Published in American journal of medical genetics. Part A (01.11.2012)
Published in American journal of medical genetics. Part A (01.11.2012)
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Journal Article
Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion
Prabhakara, K, Bruno, Damien L, Padman, Priya, Prasad, Suma, Sudheer Kumar, R, Slater, Howard R, Radha Ramadevi, A
Published in Prenatal diagnosis (01.05.2008)
Published in Prenatal diagnosis (01.05.2008)
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Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
de Munnik, Sonja A., Otten, Barto J., Schoots, Jeroen, Bicknell, Louise S., Aftimos, Salim, Al-Aama, Jumana Y., van Bever, Yolande, Bober, Michael B., Borm, George F., Clayton-Smith, Jill, Deal, Cheri L., Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, van Hagen, Johanna M., Hennekam, Raoul C., Jansweijer, Maaike C.E., Johnson, Diana, Kant, Sarina G., Opitz, John M., Ramadevi, A. Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T.R.M., Sluiter, A. Erik, Temple, I. Karen, Terhal, Paulien A., Toutain, Annick, Wise, Carol A., Wright, Michael, Skidmore, David L., Samuels, Mark E., Hoefsloot, Lies H., Knoers, Nine V.A.M., Brunner, Han G., Jackson, Andrew P., Bongers, Ernie M.H.F.
Published in American Journal of Medical Genetics Part A (01.11.2012)
Published in American Journal of Medical Genetics Part A (01.11.2012)
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