Jan Fischer

University Hospital Carl Gustav Carus — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

5h-index578citations20works2.02yr avg
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Research Topics

Genomics and Rare Diseases(3), Genetics and Neurodevelopmental Disorders(3), Bone Tissue Engineering Materials(2), Dental materials and restorations(2), Dental Implant Techniques and Outcomes(2)

Publications20 total

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
Genetics in Medicine·2025Open Access
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics·2025· 3 citedOpen Access
Monoallelic <i>de novo</i> variants in <i>DDX17</i> cause a neurodevelopmental disorder
Brain·2024· 3 citedOpen Access
Monoallelic <i>de novo</i> variants in <i>DDX17</i> cause a novel neurodevelopmental disorder
2023Open Access
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Genetics in Medicine·2023· 4 citedOpen Access
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
Genetics in Medicine·2023· 6 citedOpen Access
Comparison of LTD between Y-TZP and high translucent Y-TZP
Dental Materials·2015
mTFP* PdCl2 soak
2014
Survival probability of zirconia‐based fixed dental prostheses up to 5 yr: a systematic review of the literature
European Journal Of Oral Sciences·2010· 170 citedOpen Access
Future of local bone regeneration – Protein versus gene therapy
Journal of Cranio-Maxillofacial Surgery·2010· 109 cited
A comparison of the osteogenic potential of adult rat mesenchymal stem cells cultured in 2-D and on 3-D collagen glycosaminoglycan scaffolds
Technology and Health Care·2006· 52 citedOpen Access
O.135 Age-dependent results and complications of transpalatal distraction?
Journal of Cranio-Maxillofacial Surgery·2006
A Collagen-glycosaminoglycan Scaffold Supports Adult Rat Mesenchymal Stem Cell Differentiation Along Osteogenic and Chondrogenic Routes
Tissue Engineering·2006· 228 cited
O1012 EXPERIENCE WITH THE INTRAMEDULLARY HIP SCREW IN THE TREATMENT OF INTER- AND SUBTROCHANTERIC FRACTURES
2004
A co-simulation concept for an efficient analysis of complex logic designs
Lecture notes in computer science·1998· 1 cited
ChemInform Abstract: Diastereoselective Uncatalyzed Conjugate Addition of Organoaluminum Reagents: Efficient Desymmetrization of (R)‐((p‐Tolylsulfinyl)methyl) quinols.
ChemInform·1997
ChemInform Abstract: Thioglycosides as Potential Glycosyl Donors in Electrochemical Glycosylation Reactions. Part 1. Their Preparation and Reactivity Towards Simple Alcohols.
ChemInform·1996
ChemInform Abstract: Thioglycosides as Potential Glycosyl Donors in Electrochemical Glycosylation Reactions. Part 2. Their Reactivity Towards Sugar Alcohols.
ChemInform·1996· 1 cited
In vitro and in vivo evaluation of a new Opaque system for metal ceramic restorations.
PubMed·1995· 1 cited
ChemInform Abstract: Anodic Glycosylation from Arylthioglycosides.
ChemInform·1991

Frequent Co-authors

Emanuele Agolini(4), Antonio Novelli(4), Ellen van Binsbergen(3), Emma Wakeling(3), Frédéric Tran Mau‐Them(3), G.G.A. Balavoine(3), Aurore Gref(3), André Lubineau(3), Eric Farrell(2), Fergal J. O’Brien(2), Brian O’Connell(2), Veronica A. Campbell(2), Frederike L. Harms(2), Alexander J.M. Dingemans(2), Maja Hempel(2), Rolph Pfundt(2), Tatjana Bierhals(2), Christian Casar(2), Jikke-Mien F. Niermeijer(2), Arne Jahn(2)