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79 results
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Fryns syndrome: a new definition.
Pinar H, Carpenter MW, Abuelo D, Singer DB. Pinar H, et al. Among authors: abuelo d. Pediatr Pathol. 1994 May-Jun;14(3):467-78. doi: 10.3109/15513819409024276. Pediatr Pathol. 1994. PMID: 8066003 Review.
Medical genetics: past, present and future.
Abuelo D. Abuelo D. Med Health R I. 1999 May;82(5):152-4. Med Health R I. 1999. PMID: 10343489 No abstract available.
Developmental delay caused by a supernumerary chromosome, inv dup (15), identified by fluorescent in situ hybridization.
Abuelo D, Mark HF, Bier JA. Abuelo D, et al. Clin Pediatr (Phila). 1995 Apr;34(4):223-6. doi: 10.1177/000992289503400410. Clin Pediatr (Phila). 1995. PMID: 7540523 No abstract available.
Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.
Meryash DL, Abuelo D. Meryash DL, et al. Among authors: abuelo d. Clin Genet. 1988 May;33(5):349-55. doi: 10.1111/j.1399-0004.1988.tb03461.x. Clin Genet. 1988. PMID: 3378365
Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.
Knisely AS, Richardson A, Abuelo D, Casey S, Singer DB. Knisely AS, et al. Among authors: abuelo d. J Med Genet. 1988 May;25(5):352-5. doi: 10.1136/jmg.25.5.352. J Med Genet. 1988. PMID: 3385745 Free PMC article.
Microcephaly syndromes.
Abuelo D. Abuelo D. Semin Pediatr Neurol. 2007 Sep;14(3):118-27. doi: 10.1016/j.spen.2007.07.003. Semin Pediatr Neurol. 2007. PMID: 17980308 Review.
Genetic syndromes: from clinical suspicion to referral to diagnosis.
Shur N, Abuelo D. Shur N, et al. Among authors: abuelo d. Pediatr Ann. 2009 Aug;38(8):419-25. doi: 10.3928/00904481-20090723-04. Pediatr Ann. 2009. PMID: 19711879 Review. No abstract available.
Risk assessment models in genetics clinic for array comparative genomic hybridization: Clinical information can be used to predict the likelihood of an abnormal result in patients.
Marano RM, Mercurio L, Kanter R, Doyle R, Abuelo D, Morrow EM, Shur N. Marano RM, et al. Among authors: abuelo d. J Pediatr Genet. 2013 Mar;2(1):25-31. doi: 10.3233/PGE-13044. J Pediatr Genet. 2013. PMID: 27625836 Free PMC article.
Ataxia telangiectasia and acinic cell carcinoma of the parotid gland.
Mock C, Coleman G, Ree JH, Abuelo DN, Crowley JP. Mock C, et al. Among authors: abuelo dn. J Surg Oncol. 1988 Oct;39(2):133-8. doi: 10.1002/jso.2930390214. J Surg Oncol. 1988. PMID: 3172793
Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting.
Abuelo DN, Ahsanuddin AN, Mark HF. Abuelo DN, et al. Am J Med Genet. 2000 Oct 23;94(5):392-9. doi: 10.1002/1096-8628(20001023)94:5<392::aid-ajmg10>;2-h. Am J Med Genet. 2000. PMID: 11050625
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