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Mornet E

9

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Abstracts of the 6th International Alkaline Phosphatase and Hypophosphatasia Symposium, May 16-19, 2012, Huningue, France.

2012
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[A novel mutation in infant hypophophatasia: a case report].

2007 La Tunisie médicale
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Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

2002 Genetic Counseling
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Molecular genetic testing using amniotic fluid

2002 Gynecologie Obstetrique & Fertilite
- Simon-Bouy B
- Mornet E
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Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

1999 Clinical Genetics
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A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

1994 American Journal of Human Genetics
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[Congenital adrenal hyperplasia (21-OH) in France. Population genetics].

1985 Archives françaises de pédiatrie
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Citations (13)