Philip N - Search Results

1

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, et al. Philip N, et al. Clin Dysmorphol. 1992 Apr;1(2):63-77. Clin Dysmorphol. 1992. PMID: 1285376

2

[Molecular biology in genetic counseling of Duchenne and Becker myopathy].

Philip N, Voelckel MA, Girardot L, Lambert JC, Moncla A, Mattei JF, Giraud F. Philip N, et al. Pediatrie. 1992;47(12):821-8. Pediatrie. 1992. PMID: 1338927 French.

3

Physical mapping of an Xq-proximal interstitial duplication in a male.

Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Mattei JF, Fontes M. Muscatelli F, et al. Among authors: philip n. Hum Genet. 1992 Mar;88(6):691-4. doi: 10.1007/BF02265299. Hum Genet. 1992. PMID: 1551675

4

Prenatal diagnosis of Fryns' syndrome.

Pellissier MC, Philip N, Potier A, Scheiner C, Aymé S, Mattei JF, Giraud F. Pellissier MC, et al. Among authors: philip n. Prenat Diagn. 1992 Apr;12(4):299-303. doi: 10.1002/pd.1970120410. Prenat Diagn. 1992. PMID: 1614987 Review.

5

Cerebrofaciothoracic dysplasia: a new family.

Philip N, Guala A, Moncla A, Monlouis M, Aymé S, Giraud F. Philip N, et al. J Med Genet. 1992 Jul;29(7):497-9. J Med Genet. 1992. PMID: 1640432 Free PMC article.

6

[The usefulness of the level of alpha-fetoprotein (AFP) and electrophoresis of amniotic acetylcholinesterase for the detection of selected congenital malformations].

Lemonnier MC, Julian C, Aymé S, Philip N, Voeckel MA, Gamerre M, Mattéi JF. Lemonnier MC, et al. Among authors: philip n. J Gynecol Obstet Biol Reprod (Paris). 1990;19(3):280-4. J Gynecol Obstet Biol Reprod (Paris). 1990. PMID: 1693158 French.

7

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Verloes A, Aymé S, Gambarelli D, Gonzales M, Le Merrer M, Mulliez N, Philip N, Roume J. Verloes A, et al. Among authors: philip n. J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297. J Med Genet. 1991. PMID: 1865466 Free PMC article. Review.

8

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology.

Philip N, Gambarelli D, Guys JM, Camboulives J, Ayme S. Philip N, et al. Eur J Pediatr. 1991 Aug;150(10):726-9. doi: 10.1007/BF01958765. Eur J Pediatr. 1991. PMID: 1915486

9

Fryns syndrome: report on 8 new cases.

Aymé S, Julian C, Gambarelli D, Mariotti B, Luciani A, Sudan N, Maurin N, Philip N, Serville F, Carles D, et al. Aymé S, et al. Among authors: philip n. Clin Genet. 1989 Mar;35(3):191-201. doi: 10.1111/j.1399-0004.1989.tb02927.x. Clin Genet. 1989. PMID: 2650934 Review.

10

The acrocallosal syndrome.

Philip N, Apicella N, Lassman I, Ayme S, Mattei JF, Giraud F. Philip N, et al. Eur J Pediatr. 1988 Feb;147(2):206-8. doi: 10.1007/BF00442226. Eur J Pediatr. 1988. PMID: 3366141

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