Suchergebnisse - Chioza, Barry A

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report von Ullah, Muhammad Ikram, Nasir, Abdul, Ahmad, Arsalan, Harlalka, Gaurav Vijay, Ahmad, Wasim, Hassan, Muhammad Jawad, Baple, Emma L., Crosby, Andrew H., Chioza, Barry A.

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Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel von Aharoni, Sharon, Barwick, Katy E. S., Straussberg, Rachel, Harlalka, Gaurav V., Nevo, Yoram, Chioza, Barry A., McEntagart, Meriel M., Mimouni-Bloch, Aviva, Weedon, Michael, Crosby, Andrew H.

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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia von Rawlins, Lettie E., Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V., Chioza, Barry A., Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H., Baple, Emma L.

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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report von DEHGHAN TEZERJANI, Masoud, MAROOFIAN, Reza, VAHIDI MEHRJARDI, Mohammad Yahya, CHIOZA, Barry A., ZAMANINEJAD, Shiva, KALANTAR, Seyed Mehdi, NORI-SHADKAM, Mahmoud, GHADIMI, Hamidreza, BAPLE, Emma L., CROSBY, Andrew H., DEHGHANI, Mohammadreza

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Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23 von Everett, Kate V., Chioza, Barry A., Georgoula, Christina, Reece, Ashley, Capon, Francesca, Parker, Keith A., Cord-Udy, Cathy, McKeigue, Paul, Mitton, Sally, Pierro, Agostino, Puri, Prem, Mitchison, Hannah M., Chung, Eddie M.K., Gardiner, R. Mark

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MNS1 variant associated with situs inversus and male infertility von Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A., Crosby, Andrew H., Baple, Emma L.

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Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia von Crosby, Andrew H., Patel, Heema, Chioza, Barry A., Proukakis, Christos, Gurtz, Kay, Patton, Michael A., Sharifi, Reza, Harlalka, Gaurav, Simpson, Michael A., Dick, Katherine, Reed, Johanna A., Al-Memar, Ali, Chrzanowska-Lightowlers, Zofia M.A., Cross, Harold E., Lightowlers, Robert N.

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Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder von Alves, Maria M, Halim, Danny, Maroofian, Reza, de Graaf, Bianca M, Rooman, Raoul, van der Werf, Christine S, Van de Vijver, Els, Mehrjardi, Mohammad YV, Aflatoonian, Majid, Chioza, Barry A, Baple, Emma L, Dehghani, Mohammadreza, Crosby, Andrew H, Hofstra, Robert MW

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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder von Ammous, Zineb, Rawlins, Lettie E., Jones, Hannah, Leslie, Joseph S., Wenger, Olivia, Scott, Ethan, Deline, Jim, Herr, Tom, Evans, Rebecca, Scheid, Angela, Kennedy, Joanna, Chioza, Barry A., Ames, Ryan M., Cross, Harold E., Puffenberger, Erik G., Harries, Lorna, Baple, Emma L., Crosby, Andrew H.

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Copy number variation of LINGO1 in familial dystonic tremor von Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Lango Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T., Crosby, Andrew H.

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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures von Baple, Emma L., Maroofian, Reza, Chioza, Barry A., Izadi, Maryam, Cross, Harold E., Al-Turki, Saeed, Barwick, Katy, Skrzypiec, Anna, Pawlak, Robert, Wagner, Karin, Coblentz, Roselyn, Zainy, Tala, Patton, Michael A., Mansour, Sahar, Rich, Phillip, Qualmann, Britta, Hurles, Matt E., Kessels, Michael M., Crosby, Andrew H.

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Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies von Salter, Claire G., Beijer, Danique, Hardy, Holly, Barwick, Katy E.S., Bower, Matthew, Mademan, Ines, De Jonghe, Peter, Deconinck, Tine, Russell, Mark A., McEntagart, Meriel M., Chioza, Barry A., Blakely, Randy D., Chilton, John K., De Bleecker, Jan, Baets, Jonathan, Baple, Emma L., Walk, David, Crosby, Andrew H.

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Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice von Bademci, Guney, Lachgar-Ruiz, María, Deokar, Mangesh, Zafeer, Mohammad Faraz, Abad, Clemer, Yildirim Baylan, Muzeyyen, Ingham, Neil J., Chen, Jing, Sineni, Claire J., Vadgama, Nirmal, Karakikes, Ioannis, Guo, Shengru, Duman, Duygu, Singh, Nitu, Harlalka, Gaurav, Jain, Shirish P., Chioza, Barry A., Walz, Katherina, Steel, Karen P., Nasir, Jamal, Tekin, Mustafa

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Loss of PCLO function underlies pontocerebellar hypoplasia type III von Ahmed, Mustafa Y., Chioza, Barry A., Rajab, Anna, Schmitz-Abe, Klaus, Al-Khayat, Aisha, Al-Turki, Saeed, Baple, Emma L., Patton, Michael A., Al-Memar, Ali Y., Hurles, Matthew E., Partlow, Jennifer N., Hill, R. Sean, Evrony, Gilad D., Servattalab, Sarah, Markianos, Kyriacos, Walsh, Christopher A., Crosby, Andrew H., Mochida, Ganeshwaran H.

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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14 von Chioza, Barry A., Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dooley, Joseph M., Dulac, Olivier, Durner, Martina, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens Laue, Guerrini, Renzo, Kjeldsen, Marianne Juel, Nabbout, Rima, Nashef, Lina, Sander, Thomas, Sirén, Auli, Wirrell, Elaine, McKeigue, Paul, Robinson, Robert, Gardiner, R. Mark, Everett, Kate V.

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Hypomorphic PCNA mutation underlies a human DNA repair disorder von Baple, Emma L., Chambers, Helen, Cross, Harold E., Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A., Harlalka, Gaurav V., Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A., Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K., Last, James I., Taylor, A. Malcolm R., Jackson, Andrew P., Ogi, Tomoo, Lehmann, Alan R., Green, Catherine M., Crosby, Andrew H.

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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice von Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization von Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H

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SLITRK6 mutations cause myopia and deafness in humans and mice von Tekin, Mustafa, Chioza, Barry A., Matsumoto, Yoshifumi, Diaz-Horta, Oscar, Cross, Harold E., Duman, Duygu, Kokotas, Haris, Moore-Barton, Heather L., Sakoori, Kazuto, Ota, Maya, Odaka, Yuri S., Foster, Joseph, Cengiz, F. Basak, Tokgoz-Yilmaz, Suna, Tekeli, Oya, Grigoriadou, Maria, Petersen, Michael B., Sreekantan-Nair, Ajith, Gurtz, Kay, Xia, Xia-Juan, Pandya, Arti, Patton, Michael A., Young, Juan I., Aruga, Jun, Crosby, Andrew H.

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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis von Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Pedro Fernandez-Murray, J, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H

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