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European Journal of Medical Genetics|July 11, 2006
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, et al.
Journal of Assisted Reproduction and Genetics|November 18, 2015
Quantitative and qualitative trophectoderm grading allows for prediction of live birth and genderThomas Ebner, Katja Tritscher, Richard B Mayer, et al.
Developmental Neurorehabilitation|October 4, 2013
Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal developmentPeter B Marschik, Katrin D Bartl-Pokorny, Helen Tager-Flusberg, et al.
Journal of Cellular and Molecular Medicine|May 21, 2009
Automatic retrieval of single microchimeric cells and verification of identity by on-chip multiplex PCRThomas Kroneis, Liat Gutstein-Abo, Kristina Kofler, et al.
BMC Medical Education|June 25, 2026
Integrating nutrition as a transversal competence: a curriculum mapping and implementation study in undergraduate medical educationSonja Lackner, Regina Roller-Wirnsberger, Sabrina Mörkl, et al.
Genomics|October 23, 2004
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologueThomas Schwarzbraun, John B Vincent, Axel Schumacher, et al.
JPMA. the Journal of the Pakistan Medical Association|December 20, 2019
Genetic study of Khyber-Pukhtunkhwa resident Pakistani families presenting primary microcephaly with intellectual disabilityJamshaid Ahmed, Christian Windpassinger, Muhammad Salim, et al.
Metabolic Brain Disease|November 1, 2021
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani familyMuhammad Muzammal, Muhammad Zeeshan Ali, Beatrice Brugger, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 17, 2008
Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent, Abdul Noor, Christian Windpassinger, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
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