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Klinik und Poliklinik für Kinder- und Jugendmedizin

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Rymen, Daisy; Winter, Julia; Van Hasselt, Peter M. et al.

Key features and clinical variability of COG6-CDG

MOLECULAR GENETICS AND METABOLISM. Bd. 116. H. 3. 2015 S. 163-170


Khoshnood, Babak; Loane, Maria; de Walle, Hermien et al.

Long term trends in prevalence of neural tube defects in Europe: population based study

BMJ-BRITISH MEDICAL JOURNAL. Bd. 351. 2015


Beck, Michael; Hughes, Derralynn; Kampmann, Christoph et al.

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

MOLECULAR GENETICS AND METABOLISM. Bd. 114. H. 2. 2015 S. S19-S20


Zepp, F.

Measles Exposure: Immediately vaccinate!

MONATSSCHRIFT KINDERHEILKUNDE. Bd. 163. H. 12. 2015 S. 1228-1228


Barisic, Ingeborg; Boban, Ljubica; Loane, Maria et al.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 23. H. 6. 2015 S. 746-752


Knuf, M

Meningokokken-Infektion. Weitreichende Möglichkeiten der Prävention

Pädiatrie hautnah. Bd. 26. H. S1. 2015 S. 20-25


Ruangkittisakul, A.; Sharopov, S.; Kantor, C. et al.

METHYLXANTHINE-EVOKED PERTURBATION OF SPONTANEOUS AND EVOKED ACTIVITIES IN ISOLATED NEWBORN RAT HIPPOCAMPAL NETWORKS

NEUROSCIENCE. Bd. 301. 2015 S. 106-120



Hendriksz, Christian J.; Giugliani, Roberto; Harmatz, Paul et al.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

MOLECULAR GENETICS AND METABOLISM. Bd. 114. H. 2. 2015 S. 178-185


Vivante, Asaf; Kleppa, Marc-Jens; Schulz, Julian et al.

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

AMERICAN JOURNAL OF HUMAN GENETICS. Bd. 97. H. 2. 2015 S. 291-301