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762 results
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Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.
Friedman JM, Birch PH. Friedman JM, et al. Am J Med Genet. 1997 May 16;70(2):138-43. doi: 10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9128932
Williams syndrome in adults.
Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Lopez-Rangel E, et al. Among authors: friedman jm. Am J Med Genet. 1992 Dec 1;44(6):720-9. doi: 10.1002/ajmg.1320440605. Am J Med Genet. 1992. PMID: 1481839
Complementary duplication and deletion of 17 (pcen----p11.2): a family with a supernumerary chromosome comprised of an interstitially deleted segment.
Friedman JM, Harrod MJ, Howard-Peebles PN. Friedman JM, et al. Am J Med Genet. 1992 Sep 1;44(1):37-40. doi: 10.1002/ajmg.1320440109. Am J Med Genet. 1992. PMID: 1519647
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.
Gorski SM, Adams KJ, Birch PH, Friedman JM, Goodfellow PJ. Gorski SM, et al. Among authors: friedman jm. Am J Hum Genet. 1992 May;50(5):1129-36. Am J Hum Genet. 1992. PMID: 1570839 Free PMC article.
Mild phenotypic abnormalities in combined del 9p2 and dup 3p2.
Game K, Friedman JM, Kalousek DK. Game K, et al. Among authors: friedman jm. Am J Med Genet. 1990 Mar;35(3):370-2. doi: 10.1002/ajmg.1320350311. Am J Med Genet. 1990. PMID: 2309784
Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.
Chitayat D, Friedman JM, Johnston MM. Chitayat D, et al. Among authors: friedman jm. Am J Med Genet. 1990 Mar;35(3):422-4. doi: 10.1002/ajmg.1320350320. Am J Med Genet. 1990. PMID: 2309792
Neuroblastoma in a child with Wiedemann-Beckwith syndrome.
Chitayat D, Friedman JM, Dimmick JE. Chitayat D, et al. Among authors: friedman jm. Am J Med Genet. 1990 Mar;35(3):433-6. doi: 10.1002/ajmg.1320350322. Am J Med Genet. 1990. PMID: 2309794
Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective.
Gilchrist DM, Friedman JM, Rogers PC, Creighton SP. Gilchrist DM, et al. Among authors: friedman jm. Am J Med Genet. 1990 Mar;35(3):437-41. doi: 10.1002/ajmg.1320350323. Am J Med Genet. 1990. PMID: 2309795
Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome.
Chitayat D, Rothchild A, Ling E, Friedman JM, Couch RM, Yong SL, Baldwin VJ, Hall JG. Chitayat D, et al. Among authors: friedman jm. Am J Med Genet. 1990 Aug;36(4):434-9. doi: 10.1002/ajmg.1320360412. Am J Med Genet. 1990. PMID: 2389800
Analysing rearrangement breakpoint distributions by means of binomial confidence intervals.
Vasarhelyi K, Friedman JM. Vasarhelyi K, et al. Among authors: friedman jm. Ann Hum Genet. 1989 Oct;53(4):375-80. doi: 10.1111/j.1469-1809.1989.tb01805.x. Ann Hum Genet. 1989. PMID: 2624431
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