Pfeiffer RA - Search Results

1

Pfeiffer RA, Seemanova E, Süss J, Müssig D, Tietze HU. Pfeiffer RA, et al. Klin Padiatr. 1992 Jan-Feb;204(1):1-5. doi: 10.1055/s-2007-1025313. Klin Padiatr. 1992. PMID: 1740896 German.

2

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

Trautmann U, Pfeiffer RA, Seufert-Satomi U, Tietze HU. Trautmann U, et al. Among authors: pfeiffer ra. J Med Genet. 1993 Apr;30(4):330-1. doi: 10.1136/jmg.30.4.330. J Med Genet. 1993. PMID: 8487285 Free PMC article.

3

Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none?

Pfeiffer RA, Kapferer L, Tietze HU. Pfeiffer RA, et al. Genet Couns. 1996;7(3):213-7. Genet Couns. 1996. PMID: 8897043

4

[Extreme tissue mosaicism in trisomy 8 syndrome. Trisomy 8 in fibroblasts and normal karyotype in lymphocytes].

Meisel-Stosiek M, Pfeiffer RA, Tietze HU. Meisel-Stosiek M, et al. Among authors: pfeiffer ra. Klin Padiatr. 1983 Sep-Oct;195(5):365-8. doi: 10.1055/s-2008-1034400. Klin Padiatr. 1983. PMID: 6632718 German.

5

[A solitary central maxillary incisor and holoprosencephaly in siblings].

Süss J, Pfeiffer RA, Zschiesche S, König R. Süss J, et al. Among authors: pfeiffer ra. Dtsch Zahnarztl Z. 1990 Dec;45(12):785-8. Dtsch Zahnarztl Z. 1990. PMID: 2135272 German.

6

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.

Wirth J, Wagner T, Meyer J, Pfeiffer RA, Tietze HU, Schempp W, Scherer G. Wirth J, et al. Among authors: pfeiffer ra. Hum Genet. 1996 Feb;97(2):186-93. doi: 10.1007/BF02265263. Hum Genet. 1996. PMID: 8566951

7

[Chromosome aberrations in Prader-Willi-Labhart syndrome--critical review, documented by 4 unusual cases].

Pfeiffer RA, Tschech L, Irle U, Wündisch GF. Pfeiffer RA, et al. Klin Padiatr. 1987 Sep-Oct;199(5):329-35. doi: 10.1055/s-2008-1026814. Klin Padiatr. 1987. PMID: 3316824 Review. German.

8

[Characteristics of a 3-year-old girl with an additional isochromosome of the long arm of an X-chromosome (47,XX, + i(Xq))].

Pfeiffer RA, Wündisch G. Pfeiffer RA, et al. Klin Padiatr. 1991 Jan-Feb;203(1):47-50. doi: 10.1055/s-2007-1025399. Klin Padiatr. 1991. PMID: 2027268 German.

9

[Dwarfism in pericentric inversion of the X-chromosome].

Beyer R, Wild F, Singer H, Pfeiffer R, Dörr HG. Beyer R, et al. Klin Padiatr. 1995 Sep-Oct;207(5):305-8. doi: 10.1055/s-2008-1046557. Klin Padiatr. 1995. PMID: 7500609 German.

10

Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation.

Pfeiffer RA, Diekmann L, Stock HJ. Pfeiffer RA, et al. Ann Genet. 1988;31(4):241-3. Ann Genet. 1988. PMID: 3265308

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