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Cytogenetic and Genome Research|November 18, 2014
17q21.31 microdeletion: brain anomalies leading to prenatal diagnosisMatthieu Egloff, Ferechte Encha-Razavi, Catherine Garel, et al.
Bulletin De L'Academie Nationale De Medecine|November 5, 2002
[Preimplantation genetic diagnosis: update of the Parisian group]René Frydman, Gérard Tachdjian, Nelly Achour-Frydman, et al.
Nature Genetics|March 18, 2003
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndromeJeanne Amiel, Béatrice Laudier, Tania Attié-Bitach, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowthValérie Malan, Suzanne Chevallier, Gwendoline Soler, et al.
Birth Defects Research|January 10, 2018
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1Séverine Bacrot, Charlotte Mechler, Naima Talhi, et al.
Pediatric Research|April 23, 2005
Long-chain fatty acid oxidation during early human developmentNadia A Oey, Margarethe E J den Boer, Frits A Wijburg, et al.
Birth Defects Research|August 1, 2017
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 ObservationsSihem Darouich, Lucile Boutaud, Bettina Bessières, et al.
Bulletin De L'Academie Nationale De Medecine|March 2, 2012
[Ten years' experience of preimplantation genetic diagnosis in Paris: remaining obstacles and potential solutions]René Frydman, Nelly Achour-Frydman, Julie Steffann, et al.
Birth Defects Research|January 23, 2018
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral patternSuzanne Chartier, Caroline Alby, Lucile Boutaud, et al.
American Journal of Human Genetics|December 14, 2004
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsyFlorence Molinari, Annick Raas-Rothschild, Marlene Rio, et al.
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