Rezultati - Morar, Bharti

Integrity of genome-wide genotype data from low passage lymphoblastoid cell lines od 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 od Flesch, Brigitte K., Morar, Bharti, Comas, David, Muñiz-Diaz, Eduardo, Nogués, Núria, Kalaydjieva, Luba

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Deleterious GRM1 Mutations in Schizophrenia od 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 od 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 od 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) od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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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