Lorenz P - Search Results

1

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

Katzke S, Booms P, Tiecke F, Palz M, Pletschacher A, Türkmen S, Neumann LM, Pregla R, Leitner C, Schramm C, Lorenz P, Hagemeier C, Fuchs J, Skovby F, Rosenberg T, Robinson PN. Katzke S, et al. Among authors: lorenz p. Hum Mutat. 2002 Sep;20(3):197-208. doi: 10.1002/humu.10112. Hum Mutat. 2002. PMID: 12203992

2

Screening of the SPTBN2 (SCA5) gene in German SCA patients.

Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-Kaesbach G, Bürk K. Zühlke C, et al. Among authors: lorenz p. J Neurol. 2007 Dec;254(12):1649-52. doi: 10.1007/s00415-007-0600-1. Epub 2007 Oct 25. J Neurol. 2007. PMID: 17940722

3

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Mackenroth L, Rump A, Lorenz P, Schröck E, Tzschach A. Mackenroth L, et al. Among authors: lorenz p. Clin Dysmorphol. 2016 Jul;25(3):106-9. doi: 10.1097/MCD.0000000000000124. Clin Dysmorphol. 2016. PMID: 27057656 No abstract available.

4

False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size.

Lorenz P, Bollmann R, Hinkel GK, Mächler M, Siegert G, Stamminger G, Wendisch J, Ziemer S. Lorenz P, et al. Prenat Diagn. 1991 Nov;11(11):819-25. doi: 10.1002/pd.1970111103. Prenat Diagn. 1991. PMID: 1754554

5

[Carpenter syndrome (McK 20100, 20102, 27235)].

Lorenz P, Gedschold J, Hinkel GK, Rupprecht E. Lorenz P, et al. Kinderarztl Prax. 1991 Oct;59(10):317-9. Kinderarztl Prax. 1991. PMID: 1745039 German. No abstract available.

6

[Opitz' trigonocephaly syndrome].

Prager B, Hinkel GK, Lorenz P. Prager B, et al. Among authors: lorenz p. Kinderarztl Prax. 1991 Nov;59(11):346-8. Kinderarztl Prax. 1991. PMID: 1758140 German.

7

[Syndrome of craniosynostosis with syn- or polydactylia].

Lorenz P, Hinkel GK, Rupprecht E. Lorenz P, et al. Kinderarztl Prax. 1991 Jul-Aug;59(7-8):195-9. Kinderarztl Prax. 1991. PMID: 1656132 Review. German.

8

[Craniodigital syndrome (Scott) (McK 31286)].

Lorenz P, Hinkel GK, Rupprecht E. Lorenz P, et al. Kinderarztl Prax. 1991 Jul-Aug;59(7-8):245-6. Kinderarztl Prax. 1991. PMID: 1656134 German. No abstract available.

9

The craniodigital syndrome of Scott: report of a second family.

Lorenz P, Hinkel GK, Hoffmann C, Rupprecht E. Lorenz P, et al. Am J Med Genet. 1990 Oct;37(2):224-6. doi: 10.1002/ajmg.1320370211. Am J Med Genet. 1990. PMID: 2174209

10

[Acrocephalosyndactylia with multiple exostoses, bilateral parieto-occipital "encephaloceles", micropenis and severe mental retardation].

Lorenz P, Hinkel GK, Rupprecht E. Lorenz P, et al. Kinderarztl Prax. 1991 Jul-Aug;59(7-8):242-4. Kinderarztl Prax. 1991. PMID: 1921177 German. No abstract available.

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