Philip N - Search Results

1

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Among authors: philip n. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article.

2

Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy.

Mancini J, Philip N, Chabrol B, Divry P, Rolland MO, Pinsard N. Mancini J, et al. Among authors: philip n. Pediatr Neurol. 1993 May-Jun;9(3):243-6. doi: 10.1016/0887-8994(93)90095-t. Pediatr Neurol. 1993. PMID: 8352861

3

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

4

[Clinical approach to mental retardation of genetic origin].

Livet MO, Moncla A, Philip N, Chabrol B, Mancini J. Livet MO, et al. Among authors: philip n. Rev Neurol (Paris). 1999 Sep;155(8):593-5. Rev Neurol (Paris). 1999. PMID: 10486850 Review. French.

5

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N. Bernard R, et al. Among authors: philip n. Eur J Hum Genet. 2000 Mar;8(3):229-35. doi: 10.1038/sj.ejhg.5200433. Eur J Hum Genet. 2000. PMID: 10780790

6

Mevalonic aciduria and hyper-IgD syndrome: two sides of the same coin?

Tsimaratos M, Kone-Paut I, Divry P, Philip N, Chabrol B. Tsimaratos M, et al. Among authors: philip n. J Inherit Metab Dis. 2001 Jun;24(3):413-4. doi: 10.1023/a:1010577207726. J Inherit Metab Dis. 2001. PMID: 11486910 No abstract available.

7

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders.

Bernard R, Boyer A, Nègre P, Malzac P, Latour P, Vandenberghe A, Philip N, Lévy N. Bernard R, et al. Among authors: philip n. Eur J Hum Genet. 2002 May;10(5):297-302. doi: 10.1038/sj.ejhg.5200804. Eur J Hum Genet. 2002. PMID: 12082504

8

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.

Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N. Voelckel MA, et al. Among authors: philip n. Ann Genet. 2004 Jul-Sep;47(3):235-40. doi: 10.1016/j.anngen.2004.04.002. Ann Genet. 2004. PMID: 15337468

9

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depétris D, Mattei MG, Philip N, Lévy N. Aubourg P, et al. Among authors: philip n. J Med Genet. 2005 Mar;42(3):253-9. doi: 10.1136/jmg.2004.021899. J Med Genet. 2005. PMID: 15744040 Free PMC article. No abstract available.

10

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Chabrol B, Girard N, N'Guyen K, Gérard A, Carlier M, Villard L, Philip N. Chabrol B, et al. Among authors: n guyen k, philip n. Am J Med Genet A. 2005 Nov 1;138(4):314-7. doi: 10.1002/ajmg.a.30882. Am J Med Genet A. 2005. PMID: 16158428

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