SG
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Hyaline cartilage microtissues engineered from adult dedifferentiated chondrocytes: safety and role of WNT signaling | Stem cells translational medicine |  | 2022 | 445 | 168 | ||
| The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice | PLOS ONE | | 2020 | 335 | 197 | ||
| Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor | Stem cell research | | 2020 | 248 | 133 | ||
| Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | | 2018 | 455 | 435 | ||
| Heterozygous Deletion of Chorein Exons 70-73 and GNA14 Exons 3-7 in a Brazilian Patient Presenting With Probable Tau-Negative Early-Onset Alzheimer Disease | Alzheimer Disease and Associated Disorders |  | 2017 | 479 | 0 | ||
| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | 2016 | 741 | 262 | ||
| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | 2015 | 748 | 0 | |||
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells | | 2015 | 648 | 0 | ||
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | 2014 | 695 | 4 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | 2014 | 745 | 477 | ||
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2013 | 635 | 0 | ||
| Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential | Journal of Cellular and Molecular Medicine | | 2012 | 746 | 4 | ||
| Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? | European journal of medical genetics | | 2012 | 680 | 0 | ||
| Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells | JAT. Journal of applied toxicology | | 2012 | 736 | 764 | ||
| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | 2011 | 720 | 0 | ||
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | 2011 | 804 | 2 | ||
| A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats | Human molecular genetics | | 2010 | 568 | 0 | ||
| A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes | PloS one | | 2010 | 754 | 280 | ||
| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | 2010 | 679 | 0 | ||
| Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations | Journal of child sexual abuse | | 2010 | 641 | 0 | ||
| A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents | Genetics in medicine | | 2010 | 574 | 0 | ||
| Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation | American journal of medical genetics. Part A | | 2010 | 544 | 0 | ||
| The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma | Molecular cancer | | 2009 | 662 | 616 | ||
| Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms | European journal of medical genetics | | 2009 | 690 | 0 | ||
| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | The New England journal of medicine | | 2008 | 707 | 2,026 |
