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Online Ressourcen 1 Spectrum of genetic variants in a cohort of 37 laterality defect cases
Antony, Dinu. - Freiburg : Universität, 2022
Online Ressource
Online Ressourcen 2 Ciliary dyneins and dynein related ciliopathies
Antony, Dinu. - Freiburg : Universität, 2021
Online Ressource
Artikel 3 Long-read trio sequencing of individuals with unsolved intellectual disability
Enthalten in European journal of human genetics 30.11.2020: 1-12
Online Ressource
Artikel 4 Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
Enthalten in Genetics in medicine 28.10.2020: 1-9
Online Ressource
Artikel 5 Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Enthalten in Genetics in medicine 11.6.2019: 1-9
Online Ressource
Artikel 6 Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
Enthalten in Genetics in medicine 20.12.2018: 1-7
Online Ressource
Artikel 7 Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants
Enthalten in European journal of human genetics 12.11.2018: 1-11
Online Ressource
Artikel 8 Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis
Enthalten in Journal of inherited metabolic disease Bd. 17, Nr. 3, date:5.1994: 339-341
Online Ressource
Artikel 9 Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis
Enthalten in Human genetics Bd. 86, Nr. 4, date:2.1991: 404-407
Online Ressource
Artikel 10 Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy
Enthalten in Human genetics Bd. 83, Nr. 3, date:10.1989: 245-251
Online Ressource


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