Starten Sie Ihre Suche...


Wir weisen darauf hin, dass wir technisch notwendige Cookies verwenden. Weitere Informationen

Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes et al.

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect

CLINICAL DYSMORPHOLOGY. Bd. 28. H. 3. 2019 S. 135-139


Arash-Kaps, Laila; Komlosi, Katalin; Seegraeber, Marlene et al.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

JOURNAL OF PEDIATRICS. Bd. 215. 2019 S. 152-+


Gucev, Zoran S.; Tasic, Velibor B.; Saveski, Aleksandar et al.

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication

CLINICAL DYSMORPHOLOGY. Bd. 28. H. 3. 2019 S. 140-142


Piard, Juliette; Lespinasse, James; Vlckova, Marketa et al.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 176. H. 3. 2018 S. 668-675



Arnoux, Isabelle; Willam, Michael; Griesche, Nadine et al.

Metformin reverses early cortical network dysfunction and behavior changes in Huntington's disease

ELIFE. Bd. 7. 2018


Ufartes, Roser; Schwenty-Lara, Janina; Freese, Luisa et al.

Sema3a plays a role in the pathogenesis of CHARGE syndrome

HUMAN MOLECULAR GENETICS. Bd. 27. H. 8. 2018 S. 1343-1352


Diken, Elif; Linke, Matthias; Baumgart, Jan et al.

Superovulation Influences Methylation Reprogramming and Delays Onset of DNA Replication in Both Pronuclei of Mouse Zygotes

CYTOGENETIC AND GENOME RESEARCH. Bd. 156. H. 2. 2018 S. 95-105


Komlosi, Katalin; Diederich, Stefan; Fend-Guella, Desiree Lucia et al.

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

ORPHANET JOURNAL OF RARE DISEASES. Bd. 13. 2018


Gerber, Tiemo S.; Schad, Arno; Hartmann, Nils et al.

Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer

ENDOCRINE CONNECTIONS. Bd. 7. H. 1. 2018 S. 47-55