Dahoun, Sophie

 
Title Year Hits Downloads
Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus 2015 163 0
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 2014 319 129
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes 2013 260 3
Evolution des indications des diagnostics prénatals de 1999 à 2011 suite à l’introduction du test combiné à Genève 2013 328 629
Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome 2012 222 3
A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis 2012 259 1
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? 2012 248 1
NANOG priming before full reprogramming may generate germ cell tumours 2011 282 1
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report 2011 228 2
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 2009 352 0
Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity 2008 294 577
Derivation of the first Swiss human embryonic stem cell line from a single blastomere of an arrested four-cell stage embryo 2008 269 1
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events 2008 244 4
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients 2008 275 2
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 2007 233 0
No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome 2006 278 193
No association between DUP25 and anxiety disorders 2004 263 0
Establishment of permanent cell lines purified from human mesothelioma: morphological aspects, new marker expression and karyotypic analysis 2004 227 1
Turner syndrome with complex mosaic monosomy and structural aorta anomalies 2003 144 0
A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography 2000 210 0
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