| Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus | African journal of paediatric surgery |  | | 2015 | 556 | 0 |
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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 | 755 | 585 |
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| Evolution des indications des diagnostics prénatals de 1999 à 2011 suite à l'introduction du test combiné à Genève | | | | 2013 | 713 | 1,145 |
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| Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes | American journal of human genetics | | | 2013 | 713 | 3 |
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| A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis | Hormone research in paediatrics | | | 2012 | 674 | 0 |
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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 | 686 | 0 |
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| Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome | Psychiatry research | | | 2012 | 675 | 3 |
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| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | | 2011 | 665 | 2 |
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| NANOG priming before full reprogramming may generate germ cell tumours | European cells & materials | | | 2011 | 739 | 1 |
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| Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 | European journal of human genetics | | | 2009 | 747 | 0 |
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| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients | American journal of medical genetics. Part A | | | 2008 | 684 | 0 |
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| Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity | Molecular cytogenetics | | | 2008 | 714 | 920 |
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| Derivation of the first Swiss human embryonic stem cell line from a single blastomere of an arrested four-cell stage embryo | Schweizerische medizinische Wochenschrift | | | 2008 | 621 | 0 |
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| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | | 2008 | 736 | 4 |
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| Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 | Genome research | | | 2007 | 650 | 0 |
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| No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome | The American journal of psychiatry | | | 2006 | 718 | 500 |
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| Establishment of permanent cell lines purified from human mesothelioma: morphological aspects, new marker expression and karyotypic analysis | Histochemistry and cell biology | | | 2004 | 596 | 314 |
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| No association between DUP25 and anxiety disorders | American journal of medical genetics. Part B, Neuropsychiatric genetics | | | 2004 | 649 | 0 |
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| Pregnancy outcome of 30 fetuses with cystic hygroma diagnosed during the first 15 weeks of gestation | Genetic counseling | | | 2003 | 216 | 0 |
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| Turner syndrome with complex mosaic monosomy and structural aorta anomalies | The Journal of pediatrics | | | 2003 | 508 | 0 |
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| A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography | Gynecological endocrinology | | | 2000 | 616 | 0 |
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