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193 results
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Spectrum of small length germline mutations in the RB1 gene.
Lohmann DR, Brandt B, Höpping W, Passarge E, Horsthemke B. Lohmann DR, et al. Among authors: passarge e. Hum Mol Genet. 1994 Dec;3(12):2187-93. doi: 10.1093/hmg/3.12.2187. Hum Mol Genet. 1994. PMID: 7881418
Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: passarge e. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.
Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
Passarge E, Robinson PN, Graul-Neumann LM. Passarge E, et al. Eur J Hum Genet. 2016 Aug;24(9):1244-7. doi: 10.1038/ejhg.2016.6. Epub 2016 Feb 10. Eur J Hum Genet. 2016. PMID: 26860060 Free PMC article. Review.
The early years of the ESHG leading to the reform of 1988 and the spirit of the Sestri Levante school.
Romeo G, Passarge E, de la Chapelle A. Romeo G, et al. Among authors: passarge e. Eur J Hum Genet. 2017 Dec;25(s2):S6-S12. doi: 10.1038/ejhg.2017.142. Eur J Hum Genet. 2017. PMID: 29297870 Free PMC article. No abstract available.
Improved prediction of complex diseases by common genetic markers: state of the art and further perspectives.
Müller B, Wilcke A, Boulesteix AL, Brauer J, Passarge E, Boltze J, Kirsten H. Müller B, et al. Among authors: passarge e. Hum Genet. 2016 Mar;135(3):259-72. doi: 10.1007/s00439-016-1636-z. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839113 Free PMC article. Review.
James L. German, a pioneer in early human genetic research turned 90.
Passarge E. Passarge E. Am J Med Genet A. 2016 Jun;170(6):1564-5. doi: 10.1002/ajmg.a.37635. Epub 2016 Mar 26. Am J Med Genet A. 2016. PMID: 27016306
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Dörk T, et al. Among authors: passarge e. Hum Genet. 1997 Sep;100(3-4):365-77. doi: 10.1007/s004390050518. Hum Genet. 1997. PMID: 9272157
Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.
Wieczorek D, Gillessen-Kaesbach G, Plewa S, Passarge E. Wieczorek D, et al. Among authors: passarge e. Clin Genet. 1996 Feb;49(2):98-102. doi: 10.1111/j.1399-0004.1996.tb04337.x. Clin Genet. 1996. PMID: 8740922
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
Gillessen-Kaesbach G, Meinecke P, Garrett C, Padberg BC, Rehder H, Passarge E. Gillessen-Kaesbach G, et al. Among authors: passarge e. Am J Med Genet. 1993 Feb 15;45(4):511-8. doi: 10.1002/ajmg.1320450422. Am J Med Genet. 1993. PMID: 8465860
Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.
Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E. Rabe P, et al. Among authors: passarge e. Am J Med Genet. 1991 Dec 1;41(3):350-4. doi: 10.1002/ajmg.1320410317. Am J Med Genet. 1991. PMID: 1724113
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