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European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
February 17, 2026
Cohort of increased nuchal translucency in the first trimester without pathogenic variant on chromosomal microarray analysis: Outcomes for fetuses, neonates, and at the age of 2
Ninon Dupuis, Roberta Irmesi, Aurélie Coussement, et al.
BMC Health Services Research
|
December 25, 2019
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France
Monika Hermann, Babak Khoshnood, Olivia Anselem, et al.
Stem Cell Research
|
February 22, 2024
Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells
Mikaël Boullé, Alix Boucharlat, Ambre Leleu, et al.
Clinical Genetics
|
July 16, 2024
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities
Anaïk Previdi, Pénélope Jordan, Charles Egloff, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2024
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
Romain Nicolle, Lucile Boutaud, Laurence Loeuillet, et al.
American Journal of Medical Genetics. Part A
|
June 3, 2017
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome
Jonathan Lévy, Aurélie Coussement, Céline Dupont, et al.
Journal of Assisted Reproduction and Genetics
|
March 10, 2019
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis
Lucie Pierron, Alexandra Irrmann, Aliénor de Chalus, et al.
Birth Defects Research
|
December 20, 2022
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, et al.
Orphanet Journal of Rare Diseases
|
March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Prenatal Diagnosis
|
August 14, 2014
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations
Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, et al.
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Search research articles
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
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European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
February 17, 2026
Cohort of increased nuchal translucency in the first trimester without pathogenic variant on chromosomal microarray analysis: Outcomes for fetuses, neonates, and at the age of 2
Ninon Dupuis, Roberta Irmesi, Aurélie Coussement, et al.
BMC Health Services Research
|
December 25, 2019
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France
Monika Hermann, Babak Khoshnood, Olivia Anselem, et al.
Stem Cell Research
|
February 22, 2024
Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells
Mikaël Boullé, Alix Boucharlat, Ambre Leleu, et al.
Clinical Genetics
|
July 16, 2024
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities
Anaïk Previdi, Pénélope Jordan, Charles Egloff, et al.
European Journal of Human Genetics : EJHG
|
February 13, 2024
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
Romain Nicolle, Lucile Boutaud, Laurence Loeuillet, et al.
American Journal of Medical Genetics. Part A
|
June 3, 2017
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome
Jonathan Lévy, Aurélie Coussement, Céline Dupont, et al.
Journal of Assisted Reproduction and Genetics
|
March 10, 2019
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis
Lucie Pierron, Alexandra Irrmann, Aliénor de Chalus, et al.
Birth Defects Research
|
December 20, 2022
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, et al.
Orphanet Journal of Rare Diseases
|
March 29, 2012
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, et al.
Prenatal Diagnosis
|
August 14, 2014
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations
Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, et al.
Page
of 2