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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Alston, Charlotte l ; Compton, Alison g ; Formosa, Luke e ; Strecker, Valentina ; Oláhová, Monika ; Haack, Tobias b ; Smet, Joél ; Stouffs, Katrien ; Diakumis, Peter ; Ciara, Elżbieta ; Cassiman, David ; Romain, Nadine

The American Journal of Human Genetics, 07 July 2016, Vol.99(1), pp.217-227 [Peer Reviewed Journal]

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Demonstration of the genuine iso-12p character of the standard marker chromosome of testicular germ cell tumors and identification of further chromosome 12 aberrations by competitive in situ hybridization.

Suijkerbuijk, R F ; van de Veen, A Y ; van Echten, J ; Buys, C H ; de Jong, B ; Oosterhuis, J W ; Warburton, D A ; Cassiman, J J ; Schonk, D ; Geurts van Kessel, A Suijkerbuijk, R F (correspondence author) ; Suijkerbuijk, R F (record owner)

American journal of human genetics, February 1991, Vol.48(2), pp.269-273 [Peer Reviewed Journal]

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