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The AQP1 del601G mutation in different European Romani (Gypsy) populations.
Published in:
2016
By:
- Flesch, Brigitte K.;
- Morar, Bharti;
- Comas, David;
- Muñiz-Diaz, Eduardo;
- Nogués, Núria;
- Kalaydjieva, Luba
Publication type:
Letter to the Editor
The molecular characterization of Gaucher disease in South Africa.
Published in:
Clinical Genetics, 1996, v. 50, n. 2, p. 78, doi. 10.1111/j.1399-0004.1996.tb02352.x
By:
- Morar, Bharti;
- Lane, Anthony B.
Publication type:
Article
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
Published in:
Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1679, doi. 10.1111/j.1528-1167.2009.02066.x
By:
- Angelicheva, Dora;
- Tournev, Ivailo;
- Guergueltcheva, Velina;
- Mihaylova, Violeta;
- Azmanov, Dimitar N.;
- Morar, Bharti;
- Radionova, Melania;
- Smith, Shelagh J.;
- Zlatareva, Dora;
- Stevens, John M.;
- Kaneva, Radka;
- Bojinova, Veneta;
- Carter, Kim;
- Brown, Matthew;
- Jablensky, Assen;
- Kalaydjieva, Luba;
- Sander, Josemir W.
Publication type:
Article
Impact of the Reelin Signaling Cascade (Ligands-Receptors-Adaptor Complex) on Cognition in Schizophrenia.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 4, p. 392, doi. 10.1002/ajmg.b.32042
By:
- Verbrugghe, Phebe;
- Bouwer, Sonja;
- Wiltshire, Steven;
- Carter, Kim;
- Chandler, David;
- Cooper, Matthew;
- Morar, Bharti;
- Razif, Muhammad F. M.;
- Henders, Anjali;
- Badcock, Johanna C.;
- Dragovic, Milan;
- Carr, Vaughan;
- Almeida, Osvaldo P.;
- Flicker, Leon;
- Montgomery, Grant;
- Jablensky, Assen;
- Kalaydjieva, Luba
Publication type:
Article
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Published in:
Nature Genetics, 2003, v. 35, n. 2, p. 185, doi. 10.1038/ng1243
By:
- Varon, Raymonda;
- Gooding, Rebecca;
- Steglich, Christina;
- Marns, Lorna;
- Tang, Hua;
- Angelicheva, Dora;
- Kiau Kiun Yong;
- Ambrugger, Petra;
- Reinhold, Anke;
- Morar, Bharti;
- Baas, Frank;
- Kwa, Marcel;
- Tourney, Ivailo;
- Guerguelcheva, Velina;
- Kremensky, Ivo;
- Lochmüller, Hanns;
- Müllner-Eidenböck, Andrea;
- Merlini, Luciano;
- Neumann, Luitgard;
- Bürger, Joachim
Publication type:
Article
Deleterious GRM1 Mutations in Schizophrenia.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032849
By:
- 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
Publication type:
Article
Y-chromosomal evidence for a strong reduction in male population size of Yakuts.
Published in:
Human Genetics, 2002, v. 110, n. 2, p. 198, doi. 10.1007/s00439-001-0664-4
By:
- Pakendorf, Brigitte;
- Morar, Bharti;
- Tarskaia, Larissa A.;
- Kayser, Manfred;
- Soodyall, Himla;
- Rodewald, Alexander;
- Stoneking, Mark
Publication type:
Article
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 326, doi. 10.1038/ejhg.2010.181
By:
- 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.
Publication type:
Article
A newly discovered founder population: the Roma/Gypsies.
Published in:
BioEssays, 2005, v. 27, n. 10, p. 1084, doi. 10.1002/bies.20287
By:
- Kalaydjieva, Luba;
- Morar, Bharti;
- Chaix, Raphaelle;
- Hua Tang
Publication type:
Article
A standard protocol for single nucleotide primer extension in the human genome using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Published in:
Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 11, p. 1195, doi. 10.1002/rcm.1038
By:
- Cheryl A. Wise;
- Maxime Paris;
- Bharti Morar;
- Wei Wang;
- Luba Kalaydjieva;
- Alan H. Bittles
Publication type:
Article
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 19, p. 4302, doi. 10.1093/hmg/ddw263
By:
- Azmanov, Dimitar N.;
- Siira, Stefan J.;
- Chamova, Teodora;
- Kaprelyan, Ara;
- Guergueltcheva, Velina;
- Shearwood, Anne-Marie J.;
- Liu, Ganqiang;
- Morar, Bharti;
- Rackham, Oliver;
- Bynevelt, Michael;
- Grudkova, Margarita;
- Kamenov, Zdravko;
- Svechtarov, Vassil;
- Tournev, Ivailo;
- Kalaydjieva, Luba;
- Filipovska, Aleksandra
Publication type:
Article
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant.
Published in:
Human Mutation, 2019, v. 40, n. 7, p. 893, doi. 10.1002/humu.23753
By:
- 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.
Publication type:
Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
Published in:
Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
By:
- Michael Hunter;
- Rafaëlle Bernard;
- Elizabeth Freitas;
- Amandine Boyer;
- Bharti Morar;
- Ian J. Martins;
- Ivailo Tournev;
- Albena Jordanova;
- Velina Guergelcheva;
- Boryana Ishpekova;
- Ivo Kremensky;
- Garth Nicholson;
- Beate Schlotter;
- Hanns Lochmüller;
- Thomas Voit;
- Jaume Colomer;
- P.K. Thomas;
- Nicolas Levy;
- Luba Kalaydjieva
Publication type:
Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
Published in:
Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
By:
- Michael Hunter;
- Rafaëlle Bernard;
- Elizabeth Freitas;
- Amandine Boyer;
- Bharti Morar;
- Ian J. Martins;
- Ivailo Tournev;
- Albena Jordanova;
- Velina Guergelcheva;
- Boryana Ishpekova;
- Ivo Kremensky;
- Garth Nicholson;
- Beate Schlotter;
- Hanns Lochmüller;
- Thomas Voit;
- Jaume Colomer;
- P.K. Thomas;
- Nicolas Levy;
- Luba Kalaydjieva
Publication type:
Article

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