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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.Journal of Medical Genetics|December 10, 1997
Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephalyB Benzacken, J P Siffroi, C Le Bourhis, 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.Prenatal Diagnosis|February 3, 2007
Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotypeS Kanafani, A Aboura, E Pipiras, et al.Prenatal Diagnosis|April 3, 2012
Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratoriesFrançois Vialard, Giuseppe Simoni, Denise Molina Gomes, et al.Prenatal Diagnosis|March 16, 2011
Prenatal BACs-on-Beads™ : a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosisF Vialard, G Simoni, A Aboura, et al.Journal of Medical Genetics|May 1, 2007
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletionsJ Andrieux, C Villenet, S Quief, et al.Fetal Diagnosis and Therapy|June 27, 2000
Usefulness of fluorescence in situ hybridization for the diagnosis of Turner mosaic fetuses with small ring X chromosomesJ P Siffroi, O Dupuy, N Joye, et al.Clinical Genetics|July 5, 2011
What can we learn from old microdeletion syndromes using array-CGH screening?A L Mosca-Boidron, S Bouquillon, L Faivre, et al.Pageof 4