1 – 7 of 7
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2023
-
Mark
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
2023) In European Journal of Human Genetics(
- Contribution to journal › Article
- 2020
-
Mark
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
(
- Contribution to journal › Article
- 2019
-
Mark
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
(
- Contribution to journal › Article
- 2014
-
Mark
Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome
(
- Contribution to journal › Article
-
Mark
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
(
- Contribution to journal › Article
- 2011
-
Mark
Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy
(
- Contribution to journal › Article
- 2007
-
Mark
Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida
(
- Contribution to journal › Article