Philip N - Search Results

1

Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2.

Sigaudy S, Moncla A, Fredouille C, Bourlière B, Lambert JC, Philip N. Sigaudy S, et al. Among authors: philip n. Clin Dysmorphol. 1998 Oct;7(4):257-62. doi: 10.1097/00019605-199810000-00004. Clin Dysmorphol. 1998. PMID: 9823491

2

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

3

[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.

4

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

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 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

7

Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Moncla A, Philip N, Mattei JF. Moncla A, et al. Among authors: philip n. J Med Genet. 1995 Mar;32(3):245-6. doi: 10.1136/jmg.32.3.245-a. J Med Genet. 1995. PMID: 7783183 Free PMC article. No abstract available.

8

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

Philip N, Andrac L, Moncla A, Sigaudy S, Zanon N, Lena G, Choux M. Philip N, et al. Clin Dysmorphol. 1995 Oct;4(4):347-51. doi: 10.1097/00019605-199510000-00011. Clin Dysmorphol. 1995. PMID: 8574426

9

Oral-facial-digital syndrome with retinal abnormalities: report of a new case.

Sigaudy S, Philip N, Gire C, Chabrol B. Sigaudy S, et al. Among authors: philip n. Am J Med Genet. 1996 Jan 11;61(2):193-4. doi: 10.1002/ajmg.1320610204. Am J Med Genet. 1996. PMID: 8669453 No abstract available.

10

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pellissier JF, Millet V, Mancini J, Philip N. Chabrol B, et al. Among authors: philip n. Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9382147

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