Happle R - Search Results

1

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

Aslan D, Akata RF, Schröder J, Happle R, Moog U, Bartsch O. Aslan D, et al. Among authors: happle r. Am J Med Genet A. 2014 Nov;164A(11):2947-51. doi: 10.1002/ajmg.a.36727. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25251940

2

At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series.

Toberer F, Happle R, Schneiderbauer R, Hausser I, Kröhl V, Epple A, Moog U, Enk AH, Lonsdorf AS. Toberer F, et al. Among authors: happle r. J Eur Acad Dermatol Venereol. 2017 Nov;31(11):1912-1915. doi: 10.1111/jdv.14242. Epub 2017 Apr 10. J Eur Acad Dermatol Venereol. 2017. PMID: 28342182

3

Phylloid pattern of pigmentary disturbance in a case of complex mosaicism.

Ribeiro Noce T, de Pina-Neto JM, Happle R. Ribeiro Noce T, et al. Among authors: happle r. Am J Med Genet. 2001 Jan 15;98(2):145-7. Am J Med Genet. 2001. PMID: 11223850

4

Monozygotic twins discordant for Proteus syndrome.

Brockmann K, Happle R, Oeffner F, König A. Brockmann K, et al. Among authors: happle r. Am J Med Genet A. 2008 Aug 15;146A(16):2122-5. doi: 10.1002/ajmg.a.32417. Am J Med Genet A. 2008. PMID: 18627057

5

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

Happle R, Barbi G, Eckert D, Kennerknecht I. Happle R, et al. J Med Genet. 1997 Aug;34(8):676-8. doi: 10.1136/jmg.34.8.676. J Med Genet. 1997. PMID: 9279762 Free PMC article.

6

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Garavelli L, Simonte G, Rosato S, Wischmeijer A, Albertini E, Guareschi E, Longo C, Albertini G, Gelmini C, Greco C, Errico S, Savino G, Pavanello M, Happle R, Unger S, Superti-Furga A, Grzeschik KH. Garavelli L, et al. Among authors: happle r. Am J Med Genet A. 2013 Jul;161A(7):1750-4. doi: 10.1002/ajmg.a.35964. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696273

7

Elattoproteus syndrome: delineation of an inverse form of Proteus syndrome.

Happle R. Happle R. Am J Med Genet. 1999 May 7;84(1):25-8. doi: 10.1002/(sici)1096-8628(19990507)84:1<25::aid-ajmg6>3.0.co;2-f. Am J Med Genet. 1999. PMID: 10213042 Review.

8

Superimposed linear lichen planus in a 4-year-old girl.

Adışen E, Onder M, Erdem O, Happle R. Adışen E, et al. Among authors: happle r. Int J Dermatol. 2014 Nov;53(11):e541-2. doi: 10.1111/ijd.12514. Epub 2014 Jul 29. Int J Dermatol. 2014. PMID: 25069378 No abstract available.

9

The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.

Happle R. Happle R. Am J Med Genet A. 2021 Jan;185(1):13-14. doi: 10.1002/ajmg.a.61984. Epub 2020 Nov 21. Am J Med Genet A. 2021. PMID: 33219742 No abstract available.

10

Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

Schuart C, Bassi A, Kapp F, Wieland I, Pagliazzi A, Losch H, Mazzatenta C, Bacci GM, Oranges T, Schanze D, Mohnike K, Nanda A, Fischer J, Zenker M, Happle R. Schuart C, et al. Among authors: happle r. Eur J Med Genet. 2022 May;65(5):104472. doi: 10.1016/j.ejmg.2022.104472. Epub 2022 Mar 26. Eur J Med Genet. 2022. PMID: 35351629

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

684 results

Search Page