Philip N - Search Results

1

Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.

Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, Philip N, Mattei JF, Lalande M, Livet MO. Moncla A, et al. Among authors: philip n. Eur J Hum Genet. 1999 Feb-Mar;7(2):131-9. doi: 10.1038/sj.ejhg.5200258. Eur J Hum Genet. 1999. PMID: 10196695

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

Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome.

Collignon P, Philip N, Simonin G, Mattei JF, Giraud F. Collignon P, et al. Among authors: philip n. Genet Couns. 1992;3(4):221-2. Genet Couns. 1992. PMID: 1472358

5

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

6

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.

7

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.

8

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome.

Voelckel MA, Pellissier MC, Piquet C, N'Guyen C, Boccaccio I, Philip N, Mattei JF. Voelckel MA, et al. Among authors: n guyen c, philip n. Am J Med Genet. 1991 Feb-Mar;38(2-3):374-7. doi: 10.1002/ajmg.1320380243. Am J Med Genet. 1991. PMID: 1673314

9

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Voelckel MA, Philip N, Piquet C, Pellissier MC, Oberlé I, Birg F, Mattei MG, Mattei JF. Voelckel MA, et al. Among authors: philip n. Hum Genet. 1989 Mar;81(4):353-7. doi: 10.1007/BF00283690. Hum Genet. 1989. PMID: 2564838

10

[Linkage studies in Emery-Dreifuss muscular dystrophy].

Paquis V, Philip N, Voelckel MA, Pouget J, Lemieux B, Mattei JF, Giraud F. Paquis V, et al. Among authors: philip n. J Genet Hum. 1989 Jun;37(2):127-32. J Genet Hum. 1989. PMID: 2746171 French.

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