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Carole Goumy

Showing results (21-30 of 30) with videos related to

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Birth Defects Research. Part A, Clinical and Molecular Teratology|April 23, 2014
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palateCarole Goumy, Mathilde Gay-Bellile, Eléonore Eymard-Pierre, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, et al.
Human Molecular Genetics|March 4, 2022
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?Carole Goumy, Lauren Veronese, Rodrigue Stamm, et al.
Leukemia Research|June 3, 2009
Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemiaLauren Véronèse, Olivier Tournilhac, Pierre Verrelle, et al.
Diagnostics (Basel, Switzerland)|December 9, 2023
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy TerminationCarole Goumy, Zangbéwendé Guy Ouedraogo, Elodie Bellemonte, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 28, 2016
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardationCarole Goumy, Mathilde Gay-Bellile, Gaelle Salaun, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 13, 2023
Optical genome mapping for prenatal diagnosis: A prospective studyCarole Goumy, Zangbéwendé Guy Ouedraogo, Gwendoline Soler, et al.
Prenatal Diagnosis|March 14, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)Cécile Courdier, John Boudjarane, Valérie Malan, et al.
Prenatal Diagnosis|December 11, 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case seriesMarion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, et al.
Prenatal Diagnosis|July 6, 2019
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Birth Defects Research. Part A, Clinical and Molecular Teratology|April 23, 2014
De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palateCarole Goumy, Mathilde Gay-Bellile, Eléonore Eymard-Pierre, et al.
European Journal of Human Genetics : EJHG|July 18, 2013
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, et al.
Human Molecular Genetics|March 4, 2022
Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?Carole Goumy, Lauren Veronese, Rodrigue Stamm, et al.
Leukemia Research|June 3, 2009
Strong correlation between VEGF and MCL-1 mRNA expression levels in B-cell chronic lymphocytic leukemiaLauren Véronèse, Olivier Tournilhac, Pierre Verrelle, et al.
Diagnostics (Basel, Switzerland)|December 9, 2023
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy TerminationCarole Goumy, Zangbéwendé Guy Ouedraogo, Elodie Bellemonte, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 28, 2016
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardationCarole Goumy, Mathilde Gay-Bellile, Gaelle Salaun, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 13, 2023
Optical genome mapping for prenatal diagnosis: A prospective studyCarole Goumy, Zangbéwendé Guy Ouedraogo, Gwendoline Soler, et al.
Prenatal Diagnosis|March 14, 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)Cécile Courdier, John Boudjarane, Valérie Malan, et al.
Prenatal Diagnosis|December 11, 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case seriesMarion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, et al.
Prenatal Diagnosis|July 6, 2019
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?Kamran Moradkhani, Laurence Cuisset, Pierre Boisseau, et al.
Pageof 3