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386 results
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Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
Sharland M, Patton MA, Hill L. Sharland M, et al. Am J Med Genet. 1991 Jun 15;39(4):413-4. doi: 10.1002/ajmg.1320390410. Am J Med Genet. 1991. PMID: 1877619
Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.
Sharland M, Taylor R, Patton MA, Jeffery S. Sharland M, et al. J Med Genet. 1992 Mar;29(3):188-90. doi: 10.1136/jmg.29.3.188. J Med Genet. 1992. PMID: 1348095 Free PMC article.
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
Sharland M, Bleach NR, Goberdhan PD, Patton MA. Sharland M, et al. J Med Genet. 1992 Jan;29(1):50-2. doi: 10.1136/jmg.29.1.50. J Med Genet. 1992. PMID: 1532426 Free PMC article.
Balanced translocation (14;20) in a mentally handicapped child with cystinuria.
Sharland M, Jones M, Bain M, Chalmers R, Hammond J, Patton MA. Sharland M, et al. J Med Genet. 1992 Jul;29(7):507-8. J Med Genet. 1992. PMID: 1640435 Free PMC article.
Pallister-Killian syndrome diagnosed by chorionic villus sampling.
Sharland M, Hill L, Patel R, Patton M. Sharland M, et al. Prenat Diagn. 1991 Jul;11(7):477-9. doi: 10.1002/pd.1970110712. Prenat Diagn. 1991. PMID: 1754566
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. Tassabehji M, et al. Among authors: sharland m. Am J Hum Genet. 1993 Jul;53(1):90-5. Am J Hum Genet. 1993. PMID: 8317503 Free PMC article.
Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients.
Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. Burch M, et al. Among authors: sharland m. J Am Coll Cardiol. 1993 Oct;22(4):1189-92. doi: 10.1016/0735-1097(93)90436-5. J Am Coll Cardiol. 1993. PMID: 8409059
Photoanthropometric study of facial growth in Noonan syndrome.
Sharland M, Morgan M, Patton MA. Sharland M, et al. Am J Med Genet. 1993 Feb 15;45(4):430-6. doi: 10.1002/ajmg.1320450406. Am J Med Genet. 1993. PMID: 8465844
Genetic counselling in Noonan syndrome.
Sharland M, Morgan M, Smith G, Burch M, Patton MA. Sharland M, et al. Am J Med Genet. 1993 Feb 15;45(4):437-40. doi: 10.1002/ajmg.1320450407. Am J Med Genet. 1993. PMID: 8465845
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome.
Sharland M, Patton MA, Talbot S, Chitolie A, Bevan DH. Sharland M, et al. Lancet. 1992 Jan 4;339(8784):19-21. doi: 10.1016/0140-6736(92)90141-o. Lancet. 1992. PMID: 1345952
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