Non lethal Raine syndrome and differential diagnosis by Elalaoui, Siham Chafai, Al-Sheqaih, Nada, Ratbi, Ilham, Urquhart, Jill E, O'Sullivan, James, Bhaskar, Sanjeev, Williams, Simon S, Elalloussi, Mustapha, Lyahyai, Jaber, Sbihi, Leila, Cherkaoui Jaouad, Imane, Sbihi, Abdelhafid, Newman, William G, Sefiani, Abdelaziz

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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 by Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome by Simon, Mariella, Richard, Elodie M, Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H, Qaiser, Tanveer A, Potluri, Prasanth, Mahl, Sarah E, Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-Sheqaih, Nada, Newman, William G, Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N, Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B, Wu, Doris K, Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C, Ahmed, Zubair M, Huang, Taosheng, Riazuddin, Saima

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Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene by Ratbi, Ilham, Jaouad, Imane Cherkaoui, Elorch, Hamza, Al-Sheqaih, Nada, Elalloussi, Mustapha, Lyahyai, Jaber, Berraho, Amina, Newman, William G, Sefiani, Abdelaziz

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Mutations of Human NARS2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome: e1005097 by Simon, Mariella, Richard, Elodie M, Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H, Qaiser, Tanveer A, Potluri, Prasanth, Mahl, Sarah E, Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-sheqaih, Nada, Newman, William G, Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N, Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B, Wu, Doris K, Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C, Ahmed, Zubair M, Huang, Taosheng, Riazuddin, Saima

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Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis by Daly, Sarah B., Shah, Hitesh, O'Sullivan, James, Anderson, Beverley, Bhaskar, Sanjeev, Williams, Simon, Al-Sheqaih, Nada, Mueed Bidchol, Abdul, Banka, Siddharth, Newman, William G., Girisha, Katta M.

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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome by Simon, Mariella, Richard, Elodie M., Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H., Qaiser, Tanveer A., Potluri, Prasanth, Mahl, Sarah E., Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-sheqaih, Nada, Newman, William G., Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N., Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B., Wu, Doris K., Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C., Ahmed, Zubair M., Riazuddin, Saima, Huang, Taosheng

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