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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Wilmanns, Christoph; Zechner, Ulrich; Walter, Paul Karl et al.

Correction: Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins ( Mar, 10.1055/a-2251-1628, 2024)

ZENTRALBLATT FUR CHIRURGIE. 2024


Wilmanns, Christoph; Zechner, Ulrich; Walter, Paul Karl et al.

Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins

ZENTRALBLATT FUR CHIRURGIE. 2024


Joerg, Marko; Plehn, Johanna E.; Kristen, Marco et al.

N1-methylation of adenosine (m<SUP>1</SUP>A) in ND5 mRNA leads to complex I dysfunction in Alzheimer's disease

MOLECULAR PSYCHIATRY. 2024


Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie et al.

Working towards the ERN ITHACA international consensus statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 740-742


Yao, Siyue; Zhou, Xi; Gu, Min et al.

<i>FGFR1</i> variants contributed to families with tooth agenesis

HUMAN GENOMICS. Bd. 17. H. 1. 2023


Hassunah, Pia; Thoma, Katharina; Camacho-Ordonez, Nadezhda et al.

Assessment of disease activity and management of patients with NFkB1 insufficiency

CLINICAL IMMUNOLOGY. Bd. 250. 2023 S. 34-34


Abdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise et al.

Biallelic<i> MAD2L1BP</i> (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

JCI INSIGHT. Bd. 8. H. 22. 2023


Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra et al.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

JOURNAL OF CLINICAL INVESTIGATION. Bd. 133. H. 8. 2023


Holthoefer, Laura; Selig, Mareike; Engelhardt, Verena et al.

Deciphering MALSU1 in a consanguineous family with mitochondrial cardiomyopathy

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 31. 2023 S. 156-156


Appiah, Bismark; Fullio, Camila L.; Ossola, Chiara et al.

DOT1L activity affects neural stem cell division mode and reduces differentiation and ASNS expression

EMBO REPORTS. Bd. 24. H. 8. 2023