| Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication | Clinical genetics |  | | 2026 | 11 | 27 |
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| Hyaline cartilage microtissues engineered from adult dedifferentiated chondrocytes: safety and role of WNT signaling | Stem cells translational medicine | | | 2022 | 461 | 225 |
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| The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice | PLOS ONE | | | 2020 | 347 | 304 |
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| Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor | Stem cell research | | | 2020 | 259 | 232 |
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| 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 | 469 | 594 |
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| 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 | 490 | 0 |
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| Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders | Human genomics | | | 2016 | 755 | 364 |
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| A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis | Sexual development | | | 2015 | 762 | 0 |
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| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration | Stem cells | | | 2015 | 662 | 0 |
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| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Human mutation | | | 2014 | 710 | 4 |
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| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine | | | 2014 | 761 | 606 |
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| 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 | 651 | 0 |
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| Cellular diversity within embryonic stem cells: pluripotent clonal sublines show distinct differentiation potential | Journal of Cellular and Molecular Medicine | | | 2012 | 760 | 4 |
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| 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 | 692 | 0 |
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| Aluminium chloride promotes anchorage-independent growth in human mammary epithelial cells | JAT. Journal of applied toxicology | | | 2012 | 752 | 868 |
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| A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia | European journal of medical genetics | | | 2011 | 738 | 0 |
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| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus | Nature | | | 2011 | 820 | 2 |
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| A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats | Human molecular genetics | | | 2010 | 585 | 0 |
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| A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes | PloS one | | | 2010 | 770 | 316 |
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| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | | 2010 | 694 | 0 |
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| Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations | Journal of child sexual abuse | | | 2010 | 660 | 0 |
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| A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents | Genetics in medicine | | | 2010 | 591 | 0 |
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| 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 | 559 | 0 |
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| 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 | 683 | 643 |
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| 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 | 704 | 0 |
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| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | The New England journal of medicine | | | 2008 | 728 | 2,275 |
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