Schaap C - Search Results

1

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Jongbloed RJ, Wilde AA, Geelen JL, Doevendans P, Schaap C, Van Langen I, van Tintelen JP, Cobben JM, Beaufort-Krol GC, Geraedts JP, Smeets HJ. Jongbloed RJ, et al. Among authors: schaap c. Hum Mutat. 1999;13(4):301-10. doi: 10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V. Hum Mutat. 1999. PMID: 10220144

2

Predictive DNA testing for multiple endocrine neoplasia 2: a therapeutic challenge of prophylactic thyroidectomy in very young children.

van Heurn LW, Schaap C, Sie G, Haagen AA, Gerver WJ, Freling G, van Amstel HK, Heineman E. van Heurn LW, et al. Among authors: schaap c. J Pediatr Surg. 1999 Apr;34(4):568-71. doi: 10.1016/s0022-3468(99)90075-1. J Pediatr Surg. 1999. PMID: 10235324

3

Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome?

Janssen HC, Schaap C, Vandevijver N, Moerman P, de Die-Smulders CE, Fryns JP. Janssen HC, et al. Among authors: schaap c. J Med Genet. 1999 Jun;36(6):481-4. J Med Genet. 1999. PMID: 10874639 Free PMC article. Review.

4

Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.

Moers AM, Landsvater RM, Schaap C, Jansen-Schillhorn van Veen JM, de Valk IA, Blijham GH, Höppener JW, Vroom TM, van Amstel HK, Lips CJ. Moers AM, et al. Among authors: schaap c. Am J Med. 1996 Dec;101(6):635-41. doi: 10.1016/s0002-9343(96)00330-0. Am J Med. 1996. PMID: 9003111

5

The effects of a somatostatin analogue on the metabolism of an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic hypoglycaemia.

Gerver WJ, Menheere PP, Schaap C, Degraeuwe P. Gerver WJ, et al. Among authors: schaap c. Eur J Pediatr. 1991 Jul;150(9):634-7. doi: 10.1007/BF02072623. Eur J Pediatr. 1991. PMID: 1915515

6

Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly.

Schaap C, Schrander-Stumpel CT, Fryns JP. Schaap C, et al. Genet Couns. 1992;3(4):209-15. Genet Couns. 1992. PMID: 1472356 Review.

7

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

8

Severe progressive neurological disorder associated with hydrocephalus in a man with fragile X syndrome.

Schaap C, Fryns JP. Schaap C, et al. Am J Med Genet. 1994 Jul 15;51(4):403-4. doi: 10.1002/ajmg.1320510420. Am J Med Genet. 1994. PMID: 7943007 No abstract available.

9

Cri du chat syndrome: changing phenotype in older patients.

Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Van Buggenhout GJ, et al. Among authors: schaap c. Am J Med Genet. 2000 Jan 31;90(3):203-15. doi: 10.1002/(sici)1096-8628(20000131)90:3<203::aid-ajmg5>3.0.co;2-a. Am J Med Genet. 2000. PMID: 10678657

10

A genetic diagnostic survey in an institutionalized population of 116 moderately to severely retarded male patients: the Rekem experience.

Schaap C, Schrander-Stumpel CT, Colla-Pijkels ET, Van Driessche J, Kusters R, Fryns JP. Schaap C, et al. Genet Couns. 1995;6(3):251-8. Genet Couns. 1995. PMID: 8588855

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