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1

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

Annette Deufel, Thomas Deufel, Astrid Golla, Helene Achatz, Rosemarie Bertele-Harms, Adelbert A. Roscher, Thomas Meitinger

Journal:

Year:

1994

Language:

english

File:

PDF, 477 KB

english, 1994

2

Correlation of IgE antibody titer to Aspergillus fumigatus with decreased lung function in cystic fibrosis

Dr. Thomas Nicolai, Sissi Arleth, Anne Spaeth, Rose-Marie Bertele-Harms, H. Karsten Harms

Journal:

Pediatric Pulmonology

Year:

1990

Language:

english

File:

PDF, 349 KB

english, 1990

3

Dermatitis herpetiformis and growth retardation

U. Kuhnle, R. Bertele-Harms, A. Grösser, M. Meurer

Journal:

European Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 488 KB

english, 1986

4

Mutation analysis in the diagnosis of cystic fibrosis

T. Deufel, H. Rabe, T. Wieser, T. Meitinger, J. Rosenecker, R. Bertele-Harms, K. Harms, H. -B. Hadorn, A. A. Roscher

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 304 KB

english, 1993

5

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

HK Harms, K-P Zimmer, K Kurnik, RM Bertele-Harms, S Weidinger, K Reiter

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 972 KB

english, 2002

6

69. The diagnotic of Pseud. aerug. is laboratory dependent

R.M. Bertele-Harms, H.K. Harms

Journal:

The Netherlands Journal of Medicine

Year:

1999

Language:

english

File:

PDF, 15 KB

english, 1999

7

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

Harms, H. K., Zimmer, K-P., Kurnik, K, Bertele-Harms, Rm, Weidinger, S., Reiter, K.

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 984 KB

english, 2002

8

Enzyme-Substitution Therapy with the Yeast Saccharomyces cerevisiae in Congenital Sucrase-Isomaltase Deficiency

Harms, Hinrich-Karsten, Bertele-Harms, Rose-Marie, Bruer-Kleis, Dorothea

Journal:

Boston Medical and Surgical Journal

Year:

1987

Language:

english

File:

PDF, 729 KB

english, 1987

9

Endoscopic Criteria of Crohn's Disease in Childhood and Adolescence

Burdelski, M., Posselt, H., Becker, M., Bertele-Harms, R., Rodeck, B., Hoyer, P.

Journal:

European Journal of Pediatric Surgery

Year:

1988

Language:

english

File:

PDF, 90 KB

english, 1988

10

68. THE PREDICTIVE VALUE OF ANTI-GLIADIN-ANTI-BODIES (AGA) AND ANTI-ENDOMYSIUM-ANTIBODIES (EMA) IN ADOLESCENTS WITH COELIAC DISEASE (CD) AND MUCOSAL RELAPSES AFTER UNCONTROLLED REINTRODUCTION OF A NORMAL DIET

Bertele-Harms, R. M., Kreisberger, H., Arleth, S., Brückmann, Ch., Harms, H. K.

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

1993

File:

PDF, 124 KB

1993

11

Akute multifokale Magenblutung bei Non-Hodgkin-Lymphom des oberen Digestionstraktes eines 7jährigen Mädchens*

Schmittenbecher, P., Helmig, F., Dressler, W., Meyer, U., Bertele-Harms, R.

Journal:

Klinische Pädiatrie

Year:

1988

Language:

german

File:

PDF, 518 KB

german, 1988

12

Sonographic Evaluation of Bowel Wall Thickness in Patients With Cystic Fibrosis

Dialer, Irmela, Hundt, Cornelia, Bertele-Harms, Rose-Marie, Harms, Hinrich Karsten

Journal:

Journal of Clinical Gastroenterology

Year:

2003

Language:

english

File:

PDF, 611 KB

english, 2003

13

48 ENZYME REPLACEMENT THERAPY WITH YEAST SACCHAROMYCES CEREVISIAE IN CONGENITAL SUCRASE-ISOMALTASE-DEFICIENCY (SID)

Harms, H K, Bertele-Harms, R M, Bruer-Kleis, D

Journal:

Pediatric Research

Year:

1986

Language:

english

File:

PDF, 1.23 MB

english, 1986

14

17. FREQUENCY AND INHERITANCE OF FRUCTOSE MALABSORPTION.A STUDY IN 205 UNRELATED SCHOOL CHILDREN AND 10 FAMILIES

Harms, H K, Seidel, N, März, C, Bertele-Harms, R M

Journal:

Pediatric Research

Year:

1987

File:

PDF, 113 KB

1987

15

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Will, K, Dörk, T, Stuhrmann, M, Meitinger, T, Bertele-Harms, R, Tümmler, B, Schmidtke, J

Journal:

Journal of Clinical Investigation

Year:

1994

Language:

english

File:

PDF, 1.69 MB

english, 1994