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The EMBO Journal|February 28, 1998
Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosomeE Pipiras, A Coquelle, A Bieth, et al.Cell|April 18, 1997
Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early ampliconsA Coquelle, E Pipiras, F Toledo, et al.Orvosi Hetilap|September 20, 1992
[Detection of delta F508 mutation in cystic fibrosis]G Fekete, A Váradi, E Pipiras, et al.Human Reproduction (Oxford, England)|April 6, 2006
Chromosome segregation in an infertile man carrying a unique pericentric inversion, inv(21)(p12q22.3), analysed using fluorescence in situ hybridization on sperm nuclei: significance for clinical genetics. A case reportV Malan, E Pipiras, C Sifer, et al.European Journal of Medical Genetics|May 21, 2009
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3A Delahaye, A Toutain, A Aboura, et al.Prenatal Diagnosis|February 20, 2004
Structural chromosomal mosaicism and prenatal diagnosisE Pipiras, C Dupont, S Chantot-Bastaraud, et al.Clinical Genetics|March 7, 2018
EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorderJ Lévy, D Haye, N Marziliano, et al.Fetal Diagnosis and Therapy|March 16, 2007
De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocationA Delahaye, E Pipiras, S Kanafani, et al.Journal of Medical Genetics|September 25, 2008
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?S Jaillard, C Dubourg, M Gérard-Blanluet, et al.Clinical Genetics|May 18, 2018
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorderJ Lévy, S Grotto, C Mignot, et al.Pageof 2