Results 111 to 120 of about 1,848 (180)

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome. [PDF]

NAR Genom Bioinform
Bundalian L, Strnadová MS, Garten F, Horn S, Stenzel U, Popp D, Lemke JR, Biskup S, Schulte B, May P, Bösebeck F, Garten A, Thor D, Schulz A, Hentschel J, Kelso J, Schöneberg T, Le Duc D.   +17 more
europepmc   +1 more source

Biskup-bibliofil

, 2016
openaire   +1 more source

Pelvic Floor Rehabilitation After Prostatectomy: Baseline Severity as a Predictor of Improvement-A Prospective Cohort Study. [PDF]

J Clin Med
Terek-Derszniak M, Biskup M, Skowronek T, Nowak M, Falana J, Jaskulski J, Obarzanowski M, Gozdz S, Macek P.   +8 more
europepmc   +1 more source

Natural History of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP): A Retrospective Patient Cohort Study. [PDF]

Neurol Ther
Hayer SN, McLaren DG, Nance RM, Hengel H, Röben B, Kellner M, Bürkle E, Schöls L, Bender B.   +8 more
europepmc   +1 more source

Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome. [PDF]

JCI Insight
Skenteris NT, Luttermann E, Nair S, Evangelakos I, Pujantell M, Eggers M, Hausmann F, Bérouti M, Padoan B, Flomm FJ, Claussen JM, Grünhagel B, Salfelder A, Beifuss B, Biskup S, Blümke P, Rading K, Hildebrandt H, Matschl U, Giesemann-Jansen S, Hennesen J, Nikolaev VO, Kutsche M, Kubisch C, Koch-Nolte F, Tomas NM, Tolosa E, Lütgehetmann M, Stahl FR, Hornung V, Bunders MJ, Schlein C, Topf M, Kötter I, Altfeld M.   +34 more
europepmc   +1 more source

Comment on Park et al. Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline. Genes 2024, 15, 136. [PDF]

Genes (Basel)
Battke F, Schulze M, Schulte B, Biskup S.   +3 more
europepmc   +1 more source

Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative. [PDF]

Breast
Henkel J, Laner A, Locher M, Wohlfrom T, Neitzel B, Becker K, Neuhann T, Abicht A, Steinke-Lange V, Klink B, Eichhorn B, Schmidt W, Berner D, Teubert A, Holtorf A, Heinrich S, Wildhardt G, Schulze M, von der Heyden L, Hörtnagel K, Steinberger D, Kleier S, Lorenz P, Glaubitz R, Biskup S, Holinski-Feder E.   +25 more
europepmc   +1 more source

Mechanochromic Break Points Control the Toughness of Entangled Polyphenylenes. [PDF]

ACS Macro Lett
Missikewitsch A, Komber H, Biskup T, Sommer M.   +3 more
europepmc   +1 more source

Monitoring of sandflies (Diptera: Psychodidae) and pathogen screening in Slovenia with habitat suitability modeling. [PDF]

Front Vet Sci
Ivović V, Glasnović P, Zupan S, Knapič T, Trilar T, Korva M, Knap N, Glinšek Biškup U, Avšič-Županc T, Adam K.   +9 more
europepmc   +1 more source

Phenotypic stratification predicts the pace, but not the outcome, of continence recovery after radical prostatectomy. [PDF]

PLoS One
Terek-Derszniak M, Gąsior-Perczak D, Biskup M, Skowronek T, Nowak M, Falana J, Jaskulski J, Obarzanowski M, Gozdz S, Macek P.   +9 more
europepmc   +1 more source