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European Journal of Human Genetics : EJHG|March 30, 2006
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndromeRichard Redon, Geneviève Baujat, Damien Sanlaville, et al.
Prenatal Diagnosis|November 1, 2006
Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomyChristelle Golzio, Jessica Guirchoun, Catherine Ozilou, et al.
Prenatal Diagnosis|April 6, 2004
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosumYolanda Espinosa-Parrilla, Férechté Encha-Razavi, Tania Attié-Bitach, et al.
Human Molecular Genetics|August 12, 2008
Human neural crest cells display molecular and phenotypic hallmarks of stem cellsSophie Thomas, Marie Thomas, Patrick Wincker, et al.
Pathology|January 19, 2008
A practical approach to the examination of the malformed fetal brain: impact on genetic counsellingFérechté Encha-Razavi, Marie Gonzalès, Annie Laquerrière, et al.
Harefuah|January 9, 2016
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL]Ula Aalimi, Etty Spiegel, Ilana Chervinsky, et al.
American Journal of Medical Genetics. Part A|May 29, 2013
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromesCaroline Alby, Bettina Bessieres, Eric Bieth, et al.
Birth Defects Research|April 15, 2022
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literatureLyse Ruaud, Nathalie Roux, Lucile Boutaud, et al.
Science (New York, N.Y.)|December 3, 2002
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardationFlorence Molinari, Marlene Rio, Virginia Meskenaite, et al.
Prenatal Diagnosis|February 2, 2006
Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literatureValérie Malan, Jelena Martinovic, Damien Sanlaville, et al.
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