Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
BROŽKOVÁ, DANA ŠAFKA, POSÁDKA, JAN, LAŠŠUTHOVÁ, PETRA, MAZANEC, RADIM, HABERLOVÁ, JANA, ŠIŠKOVÁ, DANA, SAKMARYOVÁ, IVA, NEUPAUEROVÁ, JANA, SEEMAN, PAVEL
Published in Molecular medicine reports (01.12.2013)
Published in Molecular medicine reports (01.12.2013)
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Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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American Journal of Human Genetics
Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A J, Gonzaga-Jauregui, Claudia, Towne, Charles F, Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R
Published in American journal of human genetics (2010)
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Published in American journal of human genetics (2010)
Journal Article
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1 A or HNPP: Rare CNVs as a Cause for Missing Heritability
FENG ZHANG, SEEMAN, Pavel, KRAUSE, Klaus-Henning, KHAJAVI, Mehrdad, POSADKA, Jan, VANDENBERGHE, Antoon, PALAU, Francesc, VAN MALDERGEM, Lionel, BAAS, Frank, TIMMERMAN, Vincent, LUPSKI, James R, PENGFEI LIU, WETERMAN, Marian A. J, GONZAGA-JAUREGUI, Claudia, TOWNE, Charles F, DEV BATISH, Sat, DE VRIENDT, Els, DE JONGHE, Peter, RAUTENSTRAUSS, Bernd
Published in American journal of human genetics (2010)
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Published in American journal of human genetics (2010)
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