Resultats de la cerca - Morar, Bharti

Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines per McCarthy, Nina S., Allan, Spencer M., Chandler, David, Jablensky, Assen, Morar, Bharti

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The AQP1 del601G mutation in different European Romani (Gypsy) populations per Flesch, Brigitte K., Morar, Bharti, Comas, David, Muñiz-Diaz, Eduardo, Nogués, Núria, Kalaydjieva, Luba

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Deleterious GRM1 Mutations in Schizophrenia per Ayoub, Mohammed Akli, Angelicheva, Dora, Vile, David, Chandler, David, Morar, Bharti, Cavanaugh, Juleen A., Visscher, Peter M., Jablensky, Assen, Pfleger, Kevin D. G., Kalaydjieva, Luba

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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: distinguishing a dual diagnosis from a hypomorphic protein-truncating variant per Lake, Nicole J., Formosa, Luke E., Stroud, David A., Ryan, Michael T., Calvo, Sarah E., Mootha, Vamsi K., Morar, Bharti, Procopis, Peter G, Christodoulou, John, Compton, Alison G., Thorburn, David R.

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Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1 per Guergueltcheva, Velina, Azmanov, Dimitar N., Angelicheva, Dora, Smith, Katherine R., Chamova, Teodora, Florez, Laura, Bynevelt, Michael, Nguyen, Thai, Cherninkova, Sylvia, Bojinova, Veneta, Kaprelyan, Ara, Angelova, Lyudmila, Morar, Bharti, Chandler, David, Kaneva, Radka, Bahlo, Melanie, Tournev, Ivailo, Kalaydjieva, Luba

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Origins and Divergence of the Roma (Gypsies) per Gresham, David, Morar, Bharti, Underhill, Peter A., Passarino, Giuseppe, Lin, Alice A., Wise, Cheryl, Angelicheva, Dora, Calafell, Francesc, Oefner, Peter J., Shen, Peidong, Tournev, Ivailo, de Pablo, Rosario, Kuĉinskas, Vaidutis, Perez-Lezaun, Anna, Marushiakova, Elena, Popov, Vesselin, Kalaydjieva, Luba

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The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time per Zhivotovsky, Lev A., Underhill, Peter A., Cinnioğlu, Cengiz, Kayser, Manfred, Morar, Bharti, Kivisild, Toomas, Scozzari, Rosaria, Cruciani, Fulvio, Destro-Bisol, Giovanni, Spedini, Gabriella, Chambers, Geoffrey K., Herrera, Rene J., Yong, Kiau Kiun, Gresham, David, Tournev, Ivailo, Feldman, Marcus W., Kalaydjieva, Luba

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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans per Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile

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Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans per Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, Jeanpierre, Cécile

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Mutation History of the Roma/Gypsies per Morar, Bharti, Gresham, David, Angelicheva, Dora, Tournev, Ivailo, Gooding, Rebecca, Guergueltcheva, Velina, Schmidt, Carolin, Abicht, Angela, Lochmüller, Hanns, Tordai, Attila, Kalmár, Lajos, Nagy, Melinda, Karcagi, Veronika, Jeanpierre, Marc, Herczegfalvi, Agnes, Beeson, David, Venkataraman, Viswanathan, Warwick Carter, Kim, Reeve, Jeff, de Pablo, Rosario, Kučinskas, Vaidutis, Kalaydjieva, Luba

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UFM1 founder mutation in the Roma population causes recessive variant of H-ABC per Hamilton, Eline M.C., Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M., Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L., Plecko, Barbara, Blaser, Susan, Wolf, Nicole I., Waisfisz, Quinten, Abbink, Truus E.M., van der Knaap, Marjo S.

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LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population per Azmanov, Dimitar N, Dimitrova, Stanislava, Florez, Laura, Cherninkova, Sylvia, Draganov, Dragomir, Morar, Bharti, Saat, Rosmawati, Juan, Manel, Arostegui, Juan I, Ganguly, Sriparna, Soodyall, Himla, Chakrabarti, Subhabrata, Padh, Harish, López-Nevot, Miguel A, Chernodrinska, Violeta, Anguelov, Botio, Majumder, Partha, Angelova, Lyudmila, Kaneva, Radka, Mackey, David A, Tournev, Ivailo, Kalaydjieva, Luba

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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine per Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J., Comas, David, Laing, Nigel G., Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen

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