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Page 1
Ruvalcaba-Myhre-Smith syndrome.
Gretzula JC, Hevia O, Schachner LS, DiLiberti JH, Ruvalcaba RH, Schimschock JR, Weleber RG, Halal F, Lipson MH, Blumberg B, et al. Gretzula JC, et al. Among authors: lipson mh. Pediatr Dermatol. 1988 Feb;5(1):28-32. doi: 10.1111/j.1525-1470.1988.tb00880.x. Pediatr Dermatol. 1988. PMID: 3380760
Common neonatal syndromes.
Lipson MH. Lipson MH. Semin Fetal Neonatal Med. 2005 Jun;10(3):221-31. doi: 10.1016/j.siny.2005.02.003. Epub 2005 Apr 22. Semin Fetal Neonatal Med. 2005. PMID: 15927878 Review.
Natural history of mosaic trisomy 14 syndrome.
Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Fujimoto A, et al. Among authors: lipson mh. Am J Med Genet. 1992 Sep 15;44(2):189-96. doi: 10.1002/ajmg.1320440214. Am J Med Genet. 1992. PMID: 1456290 Review.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Karolak JA, et al. Among authors: lipson mh. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. Spritz RA, et al. Among authors: lipson mh. Hum Mutat. 1997;10(2):175-7. doi: 10.1002/(SICI)1098-1004(1997)10:2<175::AID-HUMU12>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9259203 No abstract available.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Among authors: lipson mh. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204
25 results