Brunner HG - Search Results

1

Two additional cases of the Ohdo blepharophimosis syndrome.

Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Maat-Kievit A, et al. Among authors: brunner hg. Am J Med Genet. 1993 Nov 1;47(6):901-6. doi: 10.1002/ajmg.1320470618. Am J Med Genet. 1993. PMID: 8279489 Review.

2

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al. Meijers-Heijboer EJ, et al. Among authors: brunner hg. J Med Genet. 1992 Dec;29(12):853-7. doi: 10.1136/jmg.29.12.853. J Med Genet. 1992. PMID: 1362220 Free PMC article.

3

Presymptomatic diagnosis of myotonic dystrophy.

Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Brunner HG, et al. J Med Genet. 1992 Nov;29(11):780-4. doi: 10.1136/jmg.29.11.780. J Med Genet. 1992. PMID: 1453426 Free PMC article.

4

Intestinal pseudo-obstruction in myotonic dystrophy.

Brunner HG, Hamel BC, Rieu P, Höweler CJ, Peters FT. Brunner HG, et al. J Med Genet. 1992 Nov;29(11):791-3. doi: 10.1136/jmg.29.11.791. J Med Genet. 1992. PMID: 1453429 Free PMC article.

5

Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis.

Semmekrot BA, Haraldsson A, Weemaes CM, Smeets DF, Geven WB, Brunner HG. Semmekrot BA, et al. Among authors: brunner hg. Am J Med Genet. 1992 Mar 1;42(5):736-40. doi: 10.1002/ajmg.1320420523. Am J Med Genet. 1992. PMID: 1632450

6

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

Speleman F, Leroy JG, Van Roy N, De Paepe A, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae MR, Orye E. Speleman F, et al. Am J Med Genet. 1991 Dec 1;41(3):381-7. doi: 10.1002/ajmg.1320410321. Am J Med Genet. 1991. PMID: 1789295

7

Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.

Brunner HG, Winter RM. Brunner HG, et al. J Med Genet. 1991 Jun;28(6):389-94. doi: 10.1136/jmg.28.6.389. J Med Genet. 1991. PMID: 1870095 Free PMC article.

8

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).

Breuning MH, Snijdewint FG, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF, et al. Breuning MH, et al. J Med Genet. 1990 Oct;27(10):603-13. doi: 10.1136/jmg.27.10.603. J Med Genet. 1990. PMID: 1978860 Free PMC article.

9

Acrocallosal syndrome.

Hendriks HJ, Brunner HG, Haagen TA, Hamel BC. Hendriks HJ, et al. Among authors: brunner hg. Am J Med Genet. 1990 Mar;35(3):443-6. doi: 10.1002/ajmg.1320350325. Am J Med Genet. 1990. PMID: 2309796

10

Further delineation of the branchio-oculo-facial syndrome.

Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P, et al. Lin AE, et al. Among authors: brunner hg. Am J Med Genet. 1995 Mar 13;56(1):42-59. doi: 10.1002/ajmg.1320560112. Am J Med Genet. 1995. PMID: 7747785 Free article. Review.

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