Institute of Human Genetics

Genome-wide UPD screening in patients with intellectual disability (2014) Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, et al. Journal article Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium (2014) Milne RL, Burwinkel B, Michailidou K, Arias-Perez JI, Pilar Zamora M, Menendez-Rodriguez P, Hardisson D, et al. Journal article Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (2014) Van Rahden VA, Rau I, Fuchs S, Kosyna FK, De Almeida HL, Fryssira H, Isidor B, et al. Journal article Duchenne muscular dystrophy and malignant hyperthermia: a genetic study of the ryanodine receptor in 47 patients (2014) Rohde D, Schmitt H, Winterpacht A, Münster T Journal article A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1 (2014) Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T, Zweier C, et al. Journal article Loss of MTUS1/ATIP expression is associated with adverse outcome in advanced bladder carcinomas: data from a retrospective study (2014) Rogler A, Hoja S, Giedl J, Ekici AB, Wach S, Taubert H, Goebell P, et al. Journal article Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk (2014) Kelemen LE, Terry KL, Goodman MT, Webb PM, Bandera EV, Mcguire V, Rossing MA, et al. Journal article The Ca2+ sensor protein swiprosin-1/EFhd2 is present in neurites and involved in kinesin-mediated transport in neurons (2014) Purohit P, Perez-Branguli F, Prots I, Borger E, Gunn-Moore F, Welzel O, Loy K, et al. Journal article ?-Synuclein impairs oligodendrocyte progenitor maturation in multiple system atrophy (2014) May VEL, Ettle B, Pöhler AM, Nuber S, Ubhi K, Rockenstein E, Winner B, et al. Journal article 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy (2014) Li J, Lindstroem LS, Foo JN, Rafiq S, Schmidt MK, Pharoah PDP, Michailidou K, et al. Journal article