Authors:
Senderek, Jan
Müller, Juliane S.
Dusl, Marina
Strom, Tim M.
Lochmüller, Hanns
Citation: Senderek, Jan et al., Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect, American journal of human genetics (Online) AJHG , 88(2), 2011, pp. 162-172
Authors:
Hoffman, Katrin
Müller, Juliane S.
Stricker, Sigmar
Megarbane, Andre
Rajab, Anna
Lindner, Tom H.
Cohen, Monika
Chouery, Eliane
Adaimy, Lynn
Ghanem, Ismat
Delague, Valerie
Boltshauser, Eugen
Talim, Beril
Horvath, Rita
Robinson, Peter N.
Lochmüller, Hanns
Hübner, Christoph
Mundlos, Stefan
Citation: Hoffman, Katrin et al., Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal . Subunit, American journal of human genetics , 79(2), 2006, pp. 303-312
Authors:
Morar, Bharti
Gresham, David
Angelicheva, Dora
Tournev, Ivailo
Gooding, Rebecca
Guergueltcheva, Velina
Schmidt, Carolin
Abicht, Angela
Lochmüller, Hanns
Tordai, Attila
Kalmàr, Lajos
Nagy, Melinda
Karcagi, Veronika
Jeanpierre, Marc
Herczegfalvi, Agnes
Beeson, David
Venkataraman, Viswanathan
Carter, Kim Warwick
Reeve, Jeff
de Pablo, Rosario
Ku.inskas, Vaidutis
Kalaydjieva, Luba
Citation: Morar, Bharti et al., Mutation History of the Roma/Gypsies, American journal of human genetics , 75(4), 2004, pp. 596-609