J. Cousin

发表

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

R. Brenner, F. Muller, O. Boute, 1999 .

MxA protein in capillary blood of children with viral infections

D. Hober, G. Alm, P. Wattré, 1999, Journal of medical virology.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

[Aglossia-adactylia syndrome: two new cases (author's transl)].

C. Piussan, A. Fournier, J. Cousin, 1981, Annales de pediatrie.

[Pelvic hydatid cyst. Apropos of a case].

L. Courty, J. Cousin, J. Camelot, 1960, Journal des sciences medicales de Lille.

[Overdosage of metoclopramide in child. Apropos of 9 clinical cases].

A. Fournier, J. Cousin, H. Ducoulombier, 1969, Pediatrie.

[Giant lobar emphysema in the newborn. Left superior lobectomy. Recovery].

A. Fournier, J. Cousin, A. Pauli, 1970, Journal des sciences medicales de Lille.

[Chediak-Higashi disease: a new case treated by bone marrow allograft].

C. Griscelli, A. Fischer, A. Decoster, 1989, Annales de pediatrie.

[Viral infections in the newborn].

J. Cousin, 1970, Journal des sciences medicales de Lille.

[Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)].

J. Laï, M. Deminatti, J. Cousin, 1977, Annales de genetique.

[Nephroanemic syndrome in young infants (7 cases)].

A. Fournier, J. Cousin, H. Ducoulombier, 1967, Pediatrie.

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

R. Brenner, F. Muller, O. Boute, 1999, Human mutation.

[Thiemann's disease. A familial case].

A. Fournier, J. Cecile, J. Cousin, 1969, Pediatrie.

[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation].

J. Couturier, M. Croquette, J. Cousin, 1989, Journal de genetique humaine.