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Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM. Musante L, et al. Among authors: hinkel gk. Eur J Hum Genet. 2003 Feb;11(2):201-6. doi: 10.1038/sj.ejhg.5200935. Eur J Hum Genet. 2003. PMID: 12634870
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
Walter S, Sandig K, Hinkel GK, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O. Walter S, et al. Among authors: hinkel gk. Am J Med Genet A. 2004 Aug 1;128A(4):364-73. doi: 10.1002/ajmg.a.30160. Am J Med Genet A. 2004. PMID: 15264281
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.
Sabherwal N, Bangs F, Röth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G. Sabherwal N, et al. Among authors: hinkel gk. Hum Mol Genet. 2007 Jan 15;16(2):210-22. doi: 10.1093/hmg/ddl470. Epub 2007 Jan 2. Hum Mol Genet. 2007. PMID: 17200153
Long-term follow-up in females with Ullrich-Turner syndrome.
Pelz L, Köbschall H, Lübcke UG, Krüger G, Hinkel GK, Verron G. Pelz L, et al. Among authors: hinkel gk. Clin Genet. 1991 Jul;40(1):1-5. doi: 10.1111/j.1399-0004.1991.tb03061.x. Clin Genet. 1991. PMID: 1884512
Body height in Turner's syndrome.
Pelz L, Timm D, Eyermann E, Hinkel GK, Kirchner M, Verron G. Pelz L, et al. Among authors: hinkel gk. Clin Genet. 1982 Aug;22(2):62-6. doi: 10.1111/j.1399-0004.1982.tb01413.x. Clin Genet. 1982. PMID: 7172479
Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.
Chotai KA, Brueton LA, van Herwerden L, Garrett C, Hinkel GK, Schinzel A, Mueller RF, Speleman F, Winter RM. Chotai KA, et al. Among authors: hinkel gk. Am J Med Genet. 1994 Jul 1;51(3):270-6. doi: 10.1002/ajmg.1320510320. Am J Med Genet. 1994. PMID: 7521123 Review.
127 results