de Die-Smulders CE - Search Results

1

McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.

Schaap C, de Die-Smulders CE, Kuijten RH, Fryns JP. Schaap C, et al. Eur J Pediatr. 1992 Aug;151(8):583-5. doi: 10.1007/BF01957727. Eur J Pediatr. 1992. PMID: 1505577

2

Oculoauriculovertebral spectrum and cerebral anomalies.

Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD. Schrander-Stumpel CT, et al. J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326. J Med Genet. 1992. PMID: 1583660 Free PMC article. Review.

3

MASA syndrome: delineation of the clinical spectrum at prepubertal age.

Fryns JP, Schrander-Stumpel C, De Die-Smulders C, Borghgraef M, Van den Berghe H. Fryns JP, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):402-7. doi: 10.1002/ajmg.1320430161. Am J Med Genet. 1992. PMID: 1605218

4

Smith-Lemli-Opitz syndrome: the changing phenotype with age.

de Die-Smulders C, Fryns JP. de Die-Smulders C, et al. Genet Couns. 1992;3(2):77-82. Genet Couns. 1992. PMID: 1642814

5

Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia?

Spaepen A, Schrander-Stumpel C, Fryns JP, de Die-Smulders C, Borghgraef M, Van den Berghe H. Spaepen A, et al. Am J Med Genet. 1991 Dec 15;41(4):517-20. doi: 10.1002/ajmg.1320410428. Am J Med Genet. 1991. PMID: 1663704

6

Further evidence for the location of the BPES gene at 3q2.

de Die-Smulders CE, Engelen JJ, Donk JM, Fryns JP. de Die-Smulders CE, et al. J Med Genet. 1991 Oct;28(10):725. doi: 10.1136/jmg.28.10.725. J Med Genet. 1991. PMID: 1941972 Free PMC article. No abstract available.

7

The lethal multiple pterygium syndrome: prenatal ultrasonographic and postmortem findings; a case report.

de Die-Smulders CE, Vonsée HJ, Zandvoort JA, Fryns JP. de Die-Smulders CE, et al. Eur J Obstet Gynecol Reprod Biol. 1990 May-Jun;35(2-3):283-9. doi: 10.1016/0028-2243(90)90175-z. Eur J Obstet Gynecol Reprod Biol. 1990. PMID: 2185959

8

The lethal multiple pterygium syndrome: a nosological approach.

de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP. de Die-Smulders CE, et al. Genet Couns. 1990;1(1):13-23. Genet Couns. 1990. PMID: 2222917 Review.

9

Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.

Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P. Schrander-Stumpel C, et al. Am J Med Genet. 1990 Sep;37(1):133-5. doi: 10.1002/ajmg.1320370131. Am J Med Genet. 1990. PMID: 2240030

10

Corpus callosum agenesis in two male infants of a heterozygotic triplet pregnancy.

Vles JS, de Die-Smulders C, van der Hoeven M, Fryns JP. Vles JS, et al. Genet Couns. 1993;4(3):239-40. Genet Couns. 1993. PMID: 7505592 No abstract available.

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