E. Mornet

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

E. Mornet, Fran�oise Muller, Annie Lenvois�-Furet et al. · Human Genetics · 1997 · 98 citations

Mendelian Disorder, Genetic Disorder, Genetics +10

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen‐Kaesbach et al. · American Journal of Medical Genetics Part A · 2010 · 49 citations · Full text

Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia by Simultaneous Radioimmunoassay of 21-Deoxycortisol and 17-Hydroxyprogesterone in Amniotic Fluid

B Gueux, Jean Fiet, P. Couillin et al. · The Journal of Clinical Endocrinology & Metabolism · 1988 · 23 citations

Fertility, Amniotic Fluid, Gynecology +18

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers

Andr� M�garban�, N. Waked, Éliane Chouery et al. · American Journal of Medical Genetics · 2001 · 13 citations

Ophthalmology, Scleroderma, Neuroanatomy +14

[Congenital adrenal hyperplasia (21-OH) in France. Population genetics].

E Bois, E. Mornet, Agnès Chompret et al. · PubMed · 1985 · 13 citations

Fertility, Genetic Epidemiology, Gynecology +17