SD
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus | African journal of paediatric surgery |  | 2015 | 554 | 0 | ||
| Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | EMBO molecular medicine |  | 2014 | 753 | 553 | ||
| Evolution des indications des diagnostics prénatals de 1999 à 2011 suite à l'introduction du test combiné à Genève | | 2013 | 711 | 1,140 | |||
| Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes | American journal of human genetics | | 2013 | 711 | 3 | ||
| A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis | Hormone research in paediatrics | | 2012 | 672 | 0 | ||
| 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 | 684 | 0 | ||
| Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome | Psychiatry research | | 2012 | 673 | 3 | ||
| Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report | Genetics in medicine | | 2011 | 663 | 2 | ||
| NANOG priming before full reprogramming may generate germ cell tumours | European cells & materials | | 2011 | 737 | 1 | ||
| 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 | 745 | 0 | ||
| Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients | American journal of medical genetics. Part A | | 2008 | 682 | 0 | ||
| Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity | Molecular cytogenetics | | 2008 | 712 | 901 | ||
| 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 | 619 | 0 | ||
| Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events | American journal of medical genetics. Part A | | 2008 | 734 | 4 | ||
| Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 | Genome research | | 2007 | 648 | 0 | ||
| No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome | The American journal of psychiatry | | 2006 | 716 | 476 | ||
| Establishment of permanent cell lines purified from human mesothelioma: morphological aspects, new marker expression and karyotypic analysis | Histochemistry and cell biology | | 2004 | 594 | 298 | ||
| No association between DUP25 and anxiety disorders | American journal of medical genetics. Part B, Neuropsychiatric genetics | | 2004 | 647 | 0 | ||
| Pregnancy outcome of 30 fetuses with cystic hygroma diagnosed during the first 15 weeks of gestation | Genetic counseling | | 2003 | 214 | 0 | ||
| Turner syndrome with complex mosaic monosomy and structural aorta anomalies | The Journal of pediatrics | | 2003 | 506 | 0 | ||
| A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography | Gynecological endocrinology | | 2000 | 614 | 0 |
