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Klinik und Poliklinik für Kinder- und Jugendmedizin

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Eisengart, Julie B.; Shapiro, Elsa G.; Rudser, Kyle D. et al.

Clinical outcomes of Hurler syndrome treated exclusively with enzyme replacement therapy from a young age

MOLECULAR GENETICS AND METABOLISM. Bd. 114. H. 2. 2015 S. S40-S40



Springett, Anna; Wellesley, Diana; Greenlees, Ruth et al.

Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 167. H. 12. 2015 S. 3062-3069


Müller, T; Rasool, I; Heinz-Erian, P et al.

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

Gut_pii: gutjnl-2015-309441. Bd. May 20. 2015 S. ff


Berrier, Kathryn L.; Kazi, Zoheb B.; Prater, Sean N. et al.

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

GENETICS IN MEDICINE. Bd. 17. H. 11. 2015 S. 912-918


Meyer, Claudius U; Birkholz, Julia; Weins, Nadine et al.

Dendritic cells change IL-27 production pattern during childhood

BMC Research Notes. Bd. 8. H. 06. 2015 S. 232


Vona, B.; Hofrichter, M. A. H.; Neuner, C. et al.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

CLINICAL GENETICS. Bd. 87. H. 1. 2015 S. 49-55


Vona, B.; Hofrichter, M. A. H.; Neuner, C. et al.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

CLINICAL GENETICS. Bd. 87. H. 1. 2015 S. 49-55



Kampmann, Christoph; Perrin, Amandine; Beck, Michael

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment

ORPHANET JOURNAL OF RARE DISEASES. Bd. 10. 2015