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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Brueggemann, Felix B.; Bartsch, Oliver

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes

CLINICAL DYSMORPHOLOGY. Bd. 25. H. 2. 2016 S. 50-53


Motzek, Antje; Knezevic, Jelena; Switzeny, Olivier J. et al.

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

PLOS ONE. Bd. 11. H. 3. 2016




Schmeh, Isabella; Kidszun, Andre; Lausch, Ekkehart et al.

Chest Radiograph as Diagnostic Clue in a Floppy Infant

JOURNAL OF PEDIATRICS. Bd. 177. 2016 S. 324-+


Vona, Barbara; Lechno, Stanislav; Hofrichter, Michaela A. H. et al.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

EAR AND HEARING. Bd. 37. H. 4. 2016 S. E238-E246




Bohne, Florian; Langer, David; Martiné, Ursula et al.

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation

Clinical epigenetics. Bd. 8. H. 1. S.l.: BioMed Central 2016 Art. 47


Hadzsiev, Kinga; Komlosi, Katalin; Czako, Marta et al.

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype

MOLECULAR CYTOGENETICS. Bd. 9. 2016