An efficient clinical pipeline for microcephaly, RASopathy and leukodystrophy gene panels using Cartagenia Bench Lab's flexibl
![Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings | European Journal of Human Genetics Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings | European Journal of Human Genetics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41431-018-0128-0/MediaObjects/41431_2018_128_Fig1_HTML.jpg)
Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings | European Journal of Human Genetics
![The distribution of genetic defects underlying congenital microcephaly... | Download Scientific Diagram The distribution of genetic defects underlying congenital microcephaly... | Download Scientific Diagram](https://www.researchgate.net/publication/262228116/figure/fig2/AS:267658234953738@1440826104110/The-distribution-of-genetic-defects-underlying-congenital-microcephaly-attributable-to.png)
The distribution of genetic defects underlying congenital microcephaly... | Download Scientific Diagram
![Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Genetics in Medicine Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Genetics in Medicine](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41436-019-0464-7/MediaObjects/41436_2019_464_Fig2_HTML.png)
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Genetics in Medicine
![Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report | BMC Neurology | Full Text Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report | BMC Neurology | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12883-020-01643-1/MediaObjects/12883_2020_1643_Fig1_HTML.png)
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report | BMC Neurology | Full Text
![Comprehensive clinical study confirms the molecular link between microcephaly caused by Zika and ANKLE2 variants Comprehensive clinical study confirms the molecular link between microcephaly caused by Zika and ANKLE2 variants](https://blogs.bcm.edu/wp-content/uploads/2022/09/1Fly_model_ankle2_microcephaly-1-515x362.png)
Comprehensive clinical study confirms the molecular link between microcephaly caused by Zika and ANKLE2 variants
![Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Genetics in Medicine Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Genetics in Medicine](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41436-019-0464-7/MediaObjects/41436_2019_464_Fig1_HTML.png)
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly | Genetics in Medicine
![Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation: Cell Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation: Cell](https://www.cell.com/cms/attachment/8a54ca9a-b5e5-4d73-bf23-64c6379bd007/fx1_lrg.jpg)
Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation: Cell
![Molecular pathways serially identified among patients with microcephaly... | Download Scientific Diagram Molecular pathways serially identified among patients with microcephaly... | Download Scientific Diagram](https://www.researchgate.net/publication/273699925/figure/fig3/AS:340099725316103@1458097501591/Molecular-pathways-serially-identified-among-patients-with-microcephaly-phenotypes-in-two.png)
Molecular pathways serially identified among patients with microcephaly... | Download Scientific Diagram
![CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects | Journal of Medical Genetics CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects | Journal of Medical Genetics](https://jmg.bmj.com/sites/default/files/highwire/jmedgenet/57/6.cover-source.jpg)
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects | Journal of Medical Genetics
![Primary microcephaly caused by novel compound heterozygous mutations in ASPM | Human Genome Variation Primary microcephaly caused by novel compound heterozygous mutations in ASPM | Human Genome Variation](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fhgv.2018.15/MediaObjects/41439_2018_Article_BFhgv201815_Fig1_HTML.jpg)