S. Beck

发表

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

B. Kerem, R. Rowntree, S. Gallati, 2004, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.

M. Amaral, A. Ramalho, S. Beck, 2002, American journal of respiratory cell and molecular biology.

Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.

Bernhard Steiner, Ann Harris, Luka A Clarke, 2004, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

New Alström syndrome phenotypes based on the evaluation of 182 cases.

J. Naggert, R. Bronson, N. Sicolo, 2005, Archives of internal medicine.

Long-term expression of glomerular genes in diabetic nephropathy

B. Banas, S. Beck, T. Stempfl, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Alström Syndrome

J. Naggert, S. Beck, P. Maffei, 2007, European Journal of Human Genetics.

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

W. V. So, J. Naggert, C. Boerkoel, 2002, Nature Genetics.

Clinical utility gene card for: Alström Syndrome - update 2013

J. Naggert, S. Beck, T. Barrett, 2013, European Journal of Human Genetics.

Clinical utility gene card for: Alström syndrome

S. Beck, T. Barrett, R. Paisey, 2011, European Journal of Human Genetics.

Clinical utility gene card for: Alstroms yndrome

S. Beck, T. Barrett, R. Paisey, 2011 .

Glomerular expression pattern of long non-coding RNAs in the type 2 diabetes mellitus BTBR mouse model

M. Kretz, B. Banas, S. Beck, 2019, Scientific Reports.

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers

M. Amaral, A. Ramalho, S. Beck, 2003, Journal of medical genetics.

Spectrum of ALMS1 variants and evaluation of genotype‐phenotype correlations in Alström syndrome

W. V. So, J. Naggert, T. Hearn, 2007, Human mutation.

Characterization of the IGF system in 15 patients with Alström syndrome

J. Naggert, N. Sicolo, S. Beck, 2007, Clinical endocrinology.

Cystic Fibrosis F508del Patients Have Apically Localized CFTR in a Reduced Number of Airway Cells

M. Amaral, S. Beck, C. Farinha, 2000, Laboratory Investigation.

A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

S. Beck, H. Seydewitz, I. Witt, 1994, Blood Coagulation and Fibrinolysis.

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of medical genetics.

Lack of correlation between CFTR expression, CFTR Cl− currents, amiloride‐sensitive Na+ conductance, and cystic fibrosis phenotype

S. Beck, K. Kunzelmann, R. Greger, 1999, Pediatric pulmonology.

Cystic fibrosis patients with the 3272‐26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

M. Amaral, S. Beck, C. Farinha, 1999, Human mutation.

Glomerular expression pattern of long non-coding RNAs in the type 2 diabetes mellitus BTBR mouse model

M. Kretz, B. Banas, S. Beck, 2019, Scientific Reports.

Small GTPase Rac1: structure, localization, and expression of the human gene.

S. Scherer, S. Beck, S. Beck, 2000, Biochemical and biophysical research communications.

Alström syndrome.

J. Naggert, S. Beck, P. Maffei, 2007, European Journal of Human Genetics.

Alström Syndrome

J. Naggert, S. Beck, P. Maffei, 2007, European Journal of Human Genetics.

Cystic fibrosis patients with the 3272‐26A→G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

M. Amaral, S. Beck, C. Farinha, 1999, Human Mutation.