Ergebnisse einschränken

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Basel-Vanagaite, Lina ; Smirin-Yosef, Pola ; Essakow, Jenna ; Tzur, Shay ; Lagovsky, Irina ; Maya, Idit ; Pasmanik-Chor, Metsada ; Yeheskel, Adva ; Konen, Osnat ; Orenstein, Naama ; Weisz Hubshman, Monika ; Drasinover, Valerie ; Magal, Nurit ; Peretz Amit, Gaby ; Zalzstein, Yael ; Zeharia, Avraham ; Shohat, Mordechai ; Straussberg, Rachel ; Monté, Didier ; Salmon-Divon, Mali ; Behar, Doron

In: Human Genetics, 2015, vol. 134, no. 6, p. 577-587

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

Abdalla, Ebtesam ; Rohrbach, Marianne ; Bürer, Céline ; Kraenzlin, Marius ; El-Tayeby, Hazem ; Elbelbesy, Mervat ; Nabil, Amira ; Giunta, Cecilia

In: European Journal of Pediatrics, 2015, vol. 174, no. 1, p. 105-112

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett ; Haack, Tobias ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole ; Wortmann, Saskia ; Taylor, Robert ; Mayr, Johannes ; Bonnen, Penelope ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 905-914

Entropy-cooled nonequilibrium states of the Hubbard model

Werner, Philipp ; Li, Jianju ; Golež, Denis ; Eckstein, Martin

In: Physical Review B, 2019, vol. 100, no. 15, p. 155130

We show that the recently proposed cooling-by-doping mechanism allows one to efficiently prepare interesting nonequilibrium states of the Hubbard model. Using nonequilibrium dynamical mean field theory and a particle-hole symmetric setup with dipolar excitations to full and empty bands we produce cold photodoped Mott insulating states with a sharp Drude peak in the optical conductivity, a ...

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Basel-Vanagaite, Lina ; Yilmaz, Rüstem ; Tang, Sha ; Reuter, Miriam ; Rahner, Nils ; Grange, Dorothy ; Mortenson, Megan ; Koty, Patrick ; Feenstra, Heather ; Farwell Gonzalez, Kelly ; Sticht, Heinrich ; Boddaert, Nathalie ; Désir, Julie ; Anyane-Yeboa, Kwame ; Zweier, Christiane ; Reis, André ; Kubisch, Christian ; Jewett, Tamison ; Zeng, Wenqi ; Borck, Guntram

In: Human Genetics, 2014, vol. 133, no. 7, p. 939-949

Adipose-derived stem cells (ADSCs) and muscle precursor cells (MPCs) for the treatment of bladder voiding dysfunction

Tremp, Mathias ; Salemi, Souzan ; Largo, Remo ; Andersson, Karl-Erik ; A. Plock, Jan ; Aboushwareb, Tamer ; Sulser, Tullio ; Eberli, Daniel

In: World Journal of Urology, 2014, vol. 32, no. 5, p. 1241-1248

Particle-conserving dynamics on the single-particle level

Schindler, T. ; Wittmann, René ; Brader, Joseph M.

In: Physical Review E, 2019, vol. 99, no. 1, p. 012605

We generalize the particle-conserving dynamics method of de las Heras et al. [J. Phys.: Condens. Matter 28, 244024 (2016)] to binary mixtures and apply this to hard rods in one dimension. Considering the case of one species consisting of only one particle enables us to address the tagged-particle dynamics. The time-evolution of the species-labeled density profiles is compared to exact...

Theory of photoinduced ultrafast switching to a spin-orbital ordered hidden phase

Li, Jiajun ; Strand, Hugo U.R. ; Werner, Philipp ; Eckstein, Martin

In: Nature Communications, 2018, vol. 9, no. 1, p. 4581

Photo-induced hidden phases are often observed in materials with intertwined orders. Understanding the formation of these non-thermal phases is challenging and requires a resolution of the cooperative interplay between different orders on the ultra-short timescale. In this work, we demonstrate that non-equilibrium photo-excitations can induce a state with spin-orbital orders entirely...

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

Schneider-Yin, X. ; Mamet, R. ; Minder, E. ; Schoenfeld, N.

In: Journal of Inherited Metabolic Disease, 2008, vol. 31, p. 363-367

Chronische Erschöpfung : Das unsichtbare Symptom? = Chronic fatigue : The invisible symptom?

Martin, Alexandra ; Gaab, Jens