Fachrepositorium Lebenswissenschaften

27 Treffer

Seiten

Suche

Publisso-Menue

Seiten

The association of genetic polymorphisms in interleukin-1 receptors type 1 and type 2 with age-related hearing impairment in a Taiwanese population: A case control study

2020 . Chang, Ning-Chia | Yang, Hua-Ling | Dai, Chia-Yen | Lin, Wen-Yi | Wang, Hsun-Mo | Chien, Chen-Yu | Ho, Kuen-Yao

Multipler Acyl-CoA-Dehydrogenase-Mangel/Glutarazidurie Typ II: schwierige Diagnose, einfache Therapie

2020 . Rabenstein, M. | Weis, J. | Abicht, A. | Fink, G. R. | Lehmann, H. C. | Wunderlich, G.

Analysis of Natural Killer cell functions in patients with hereditary hemochromatosis

2020 . Bönnemann, Vivian | Claus, Maren | Butzeck, Barbara | Collette, Daniela | Bröde, Peter | Golka, Klaus | Watzl, Carsten

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

Restorative treatment in a case of amelogenesis imperfecta and 9-year follow-up: a case report

2020 . Sabandal, Martin | Dammaschke, Till | Schäfer, Edgar

SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

2020 . Osmanovic, Alma | Widjaja, Maylin | Förster, Alisa | Weder, Julia | Wattjes, Mike P. | Lange, Inken | Sarikidi, Anastasia | Auber, Bernd | Raab, Peter | Christians, Anne | Preller, Matthias | Petri, Susanne | Weber, Ruthild G.

Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway

2020 . Peixoto Pinheiro, Barbara | Vona, Barbara | Löwenheim, Hubert | Rüttiger, Lukas | Knipper, Marlies | Adel, Youssef

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

2020 . Zimmermann, Milan | Deininger, Natalie | Willikens, Sophia | Haack, Tobias B. | Grundmann-Hauser, Kathrin | Streubel, Berthold | Schreiber, Melanie | Lerche, Holger | Grimm, Alexander

Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients

2020 . Rashid, Muhammad Usman | Muhammad, Noor | Khan, Faiz Ali | Shehzad, Umara | Naeemi, Humaira | Malkani, Naila | , Ute

Leber’s hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation

2020 . Tonagel, Felix | Wilhelm, Helmut | Richter, Paul | Kelbsch, Carina

Seiten