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European Journal of Medical Genetics
|
August 10, 2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay
Stéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, et al.
Prenatal Diagnosis
|
April 6, 2004
Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis
Carole Goumy, Marie-Noëlle Bonnet-Dupeyron, Yoan Cherasse, et al.
Chromosoma
|
December 15, 2017
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells
Stephan Kemeny, Christophe Tatout, Gaelle Salaun, et al.
Reproductive Biomedicine Online
|
April 23, 2018
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage
Gaëlle Salaun, Andrei Tchirkov, Christine Francannet, et al.
Annales De Biologie Clinique
|
September 16, 2020
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities
Charline Mourgues, Eléonore Eymard-Pierre, Hélène Laurichesse-Delmas, et al.
European Journal of Medical Genetics
|
July 12, 2021
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
Florian Cherik, Mathis Lepage, Ganaelle Remerand, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome
Anne Debost-Legrand, Eleonore Eymard-Pierre, Céline Pebrel-Richard, et al.
Cytogenetic and Genome Research
|
July 24, 2015
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype
Laetitia Gouas, Stéphan Kémény, Anne-Marie Beaufrère, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 23, 2015
Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study
Anne Debost-Legrand, Lemlih Ouchchane, Christine Francannet, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome
Carole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, et al.
Page
of 3
Search research articles
Search
Showing results (11-20 of 30) with videos related to
Sort By:
Page
of 3
European Journal of Medical Genetics
|
August 10, 2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay
Stéphan Kemeny, Céline Pebrel-Richard, Eléonore Eymard-Pierre, et al.
Prenatal Diagnosis
|
April 6, 2004
Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis
Carole Goumy, Marie-Noëlle Bonnet-Dupeyron, Yoan Cherasse, et al.
Chromosoma
|
December 15, 2017
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells
Stephan Kemeny, Christophe Tatout, Gaelle Salaun, et al.
Reproductive Biomedicine Online
|
April 23, 2018
Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage
Gaëlle Salaun, Andrei Tchirkov, Christine Francannet, et al.
Annales De Biologie Clinique
|
September 16, 2020
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities
Charline Mourgues, Eléonore Eymard-Pierre, Hélène Laurichesse-Delmas, et al.
European Journal of Medical Genetics
|
July 12, 2021
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
Florian Cherik, Mathis Lepage, Ganaelle Remerand, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome
Anne Debost-Legrand, Eleonore Eymard-Pierre, Céline Pebrel-Richard, et al.
Cytogenetic and Genome Research
|
July 24, 2015
Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype
Laetitia Gouas, Stéphan Kémény, Anne-Marie Beaufrère, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
December 23, 2015
Impact of prenatal diagnosis on the outcome of patients with a transposition of great arteries: A 24-year population-based study
Anne Debost-Legrand, Lemlih Ouchchane, Christine Francannet, et al.
American Journal of Medical Genetics. Part A
|
November 27, 2014
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome
Carole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, et al.
Page
of 3