نتائج البحث - Javaher-Haghighi, Poupak

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease حسب Fischer, Carina, Trajanoski, Slave, Papić, Lea, Windpassinger, Christian, Bernert, Günther, Freilinger, Michael, Schabhüttl, Maria, Arslan-Kirchner, Mine, Javaher-Haghighi, Poupak, Plecko, Barbara, Senderek, Jan, Rauscher, Christian, Löscher, Wolfgang N., Pieber, Thomas R., Janecke, Andreas R., Auer-Grumbach, Michaela

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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder حسب Schneeberger, Pauline E, Kortüm, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, René, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Emanuele G, Abou Jamra, Rami, Siekmeyer, Manuela, Biskup, Saskia, Heller, Corina, Maier, Esther M, Javaher-Haghighi, Poupak, Bedeschi, Maria F, Ajmone, Paola F, Iascone, Maria, Peeters, Hilde, Ballon, Katleen, Jaeken, Jaak, Rodríguez Alonso, Aroa, Palomares-Bralo, María, Santos-Simarro, Fernando, Meuwissen, Marije E C, Beysen, Diane, Kooy, R Frank, Houlden, Henry, Murphy, David, Doosti, Mohammad, Karimiani, Ehsan G, Mojarrad, Majid, Maroofian, Reza, Noskova, Lenka, Kmoch, Stanislav, Honzik, Tomas, Cope, Heidi, Sanchez-Valle, Amarilis, Gelb, Bruce D, Kurth, Ingo, Hempel, Maja, Kutsche, Kerstin

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