Matthijs G - Search Results

1

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Among authors: matthijs g. Blood. 2001 Jul 1;98(1):85-92. doi: 10.1182/blood.v98.1.85. Blood. 2001. PMID: 11418466 Free article.

2

A novel MSX1 mutation in hypodontia.

De Muynck S, Schollen E, Matthijs G, Verdonck A, Devriendt K, Carels C. De Muynck S, et al. Among authors: matthijs g. Am J Med Genet A. 2004 Aug 1;128A(4):401-3. doi: 10.1002/ajmg.a.30181. Am J Med Genet A. 2004. PMID: 15264286

3

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.

Freson K, Peerlinck K, Aguirre T, Arnout J, Vermylen J, Cassiman JJ, Matthijs G. Freson K, et al. Among authors: matthijs g. Hum Mutat. 1998;11(6):470-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9603440

4

The prenatal diagnosis of spinal muscular atrophy.

Matthijs G, Devriendt K, Fryns JP. Matthijs G, et al. Prenat Diagn. 1998 Jun;18(6):607-10. Prenat Diagn. 1998. PMID: 9664607 Review. No abstract available.

5

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A. Devriendt K, et al. Among authors: matthijs g. Hum Genet. 1998 Aug;103(2):149-53. doi: 10.1007/s004390050798. Hum Genet. 1998. PMID: 9760197

6

Triplication of distal chromosome 10q.

Devriendt K, Matthijs G, Holvoet M, Schoenmakers E, Fryns JP. Devriendt K, et al. Among authors: matthijs g. J Med Genet. 1999 Mar;36(3):242-5. J Med Genet. 1999. PMID: 10204854 Free PMC article.

7

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Apäk MY, Cassiman JJ. Matthijs G, et al. J Med Genet. 1996 Jun;33(6):469-74. doi: 10.1136/jmg.33.6.469. J Med Genet. 1996. PMID: 8782046 Free PMC article.

8

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, Degreef H, Cassiman JJ, Fryns JP. Devriendt K, et al. Among authors: matthijs g. Am J Hum Genet. 1997 Mar;60(3):581-7. Am J Hum Genet. 1997. PMID: 9042917 Free PMC article.

9

Structure of the human alpha-2 macroglobulin gene and its promotor.

Matthijs G, Devriendt K, Cassiman JJ, Van den Berghe H, Marynen P. Matthijs G, et al. Biochem Biophys Res Commun. 1992 Apr 30;184(2):596-603. doi: 10.1016/0006-291x(92)90631-t. Biochem Biophys Res Commun. 1992. PMID: 1374237

10

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.

Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M. Debeer P, et al. Among authors: matthijs g. Am J Med Genet A. 2003 Jul 1;120A(1):49-58. doi: 10.1002/ajmg.a.20018. Am J Med Genet A. 2003. PMID: 12794692

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