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38 results
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Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.
DiLiberti JH, Weleber RG, Budden S. DiLiberti JH, et al. Among authors: budden s. Am J Med Genet. 1983 Jul;15(3):491-5. doi: 10.1002/ajmg.1320150315. Am J Med Genet. 1983. PMID: 6881215
Is Angelman syndrome an alternate result of del(15)(q11q13)?
Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. Magenis RE, et al. Among authors: budden s. Am J Med Genet. 1987 Dec;28(4):829-38. doi: 10.1002/ajmg.1320280407. Am J Med Genet. 1987. PMID: 3688021
Rett syndrome: studies of 13 affected girls.
Budden SS. Budden SS. Am J Med Genet Suppl. 1986;1:99-109. doi: 10.1002/ajmg.1320250511. Am J Med Genet Suppl. 1986. PMID: 3087208
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.
Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, Friedman JM, Kalousek D, Zonana J, et al. Magenis RE, et al. Among authors: budden s. Am J Med Genet. 1990 Mar;35(3):333-49. doi: 10.1002/ajmg.1320350307. Am J Med Genet. 1990. PMID: 2309780
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome.
Powell BR, Budden SS, Buist NR. Powell BR, et al. Among authors: budden ss. J Pediatr. 1993 Jul;123(1):70-5. doi: 10.1016/s0022-3476(05)81539-2. J Pediatr. 1993. PMID: 8320628
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. Wan M, et al. Among authors: budden s. Am J Hum Genet. 1999 Dec;65(6):1520-9. doi: 10.1086/302690. Am J Hum Genet. 1999. PMID: 10577905 Free PMC article.
Communication and oral-motor function in Rett syndrome.
Budden S, Meek M, Henighan C. Budden S, et al. Dev Med Child Neurol. 1990 Jan;32(1):51-5. doi: 10.1111/j.1469-8749.1990.tb08466.x. Dev Med Child Neurol. 1990. PMID: 2298336
Clinical variability in early speech-language development in females with Rett syndrome.
Budden S. Budden S. Dev Med Child Neurol. 2012 May;54(5):392-3. doi: 10.1111/j.1469-8749.2012.04246.x. Dev Med Child Neurol. 2012. PMID: 22590721 Free article. No abstract available.
The role of the physician in the care of the child with Rett syndrome.
Budden SS. Budden SS. Brain Dev. 1987;9(5):532-4. doi: 10.1016/s0387-7604(87)80080-3. Brain Dev. 1987. PMID: 3434733
Understanding, Recognizing, and Treating Rett Syndrome.
Budden SS. Budden SS. Medscape Womens Health. 1997 Mar;2(3):3. Medscape Womens Health. 1997. PMID: 9746685
The differential diagnosis often involves ruling out syndromes with similar signs of neurodevelopmental arrest--for example, meningitis or encephalitis; chromosomal disorders such as Angelman's syndrome and Prader-Willi syndrome; metabolic disorders such as ornithine carba …
The differential diagnosis often involves ruling out syndromes with similar signs of neurodevelopmental arrest--for example, meningitis or e …
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