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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10



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


Bagheri-Fam, Stefan; Ono, Makoto; Li, Li et al.

Ligand-independent activation of FGFR2c leads to XY sex reversal in humans and mice

CLINICAL ENDOCRINOLOGY. Bd. 84. 2016 S. 29-29



Iqbal, Zafar; Puettmann, Lucia; Musante, Luciana et al.

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 24. H. 3. 2016 S. 392-399


Kalkum, Gisela; Pitz, Susanne; Karabul, Nesrin et al.

Paediatric Fabry disease: prognostic significance of ocular changes for disease severity

BMC OPHTHALMOLOGY. Bd. 16. 2016


Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien et al.

Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 170. H. 12. 2016 S. 3069-3082


Boppudi, S.; Boegershausen, N.; Hove, H. B. et al.

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

CLINICAL GENETICS. Bd. 90. H. 4. 2016 S. 334-342