Albert Schinzel
Affiliations: | Medical Genetics | Universität Zürich, Zürich, ZH, Switzerland |
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| Corrêa T, Santos-Rebouças CB, Mayndra M, et al. (2021) Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications. Genes. 12 |
| Kurtas NE, Xumerle L, Leonardelli L, et al. (2019) Small supernumerary marker chromosomes: A legacy of trisomy rescue? Human Mutation. 40: 193-200 |
| Asadollahi R, Strauss JE, Zenker M, et al. (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics : Ejhg |
| Oneda B, Asadollahi R, Azzarello-Burri S, et al. (2017) Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. Molecular Syndromology. 8: 266-271 |
| Acuna-Hidalgo R, Deriziotis P, Steehouwer M, et al. (2017) Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. Plos Genetics. 13: e1006683 |
| Guo DC, Duan XY, Regalado ES, et al. (2016) Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. American Journal of Human Genetics |
| Reis LM, Tyler RC, Weh E, et al. (2016) Whole Exome Sequencing Identifies Multiple Diagnoses in Congenital Glaucoma with Systemic Anomalies. Clinical Genetics |
| Steiner B, Masood R, Rufibach K, et al. (2015) An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies. European Journal of Human Genetics : Ejhg. 23: 466-72 |
| Schinzel A. (2015) Genetics and Genomics in Medicine European Journal of Human Genetics. 23: 719-719 |
| Riegel M, Moreira LM, Espirito Santo LD, et al. (2014) Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype. Molecular Cytogenetics. 7: 77 |