Steiner CE - Search Results

1

Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.

Steiner CE, Acosta AX, Guerreiro MM, Marques-de-Faria AP. Steiner CE, et al. Arq Neuropsiquiatr. 2007 Jun;65(2A):202-5. doi: 10.1590/s0004-282x2007000200003. Arq Neuropsiquiatr. 2007. PMID: 17607414 Free article.

2

Spondylocarpotarsal synostosis with ocular findings.

Steiner CE, Torriani M, Norato DY, Marques-de-Faria AP. Steiner CE, et al. Am J Med Genet. 2000 Mar 13;91(2):131-4. Am J Med Genet. 2000. PMID: 10748412

3

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Steiner CE, Cintra ML, Marques-de-Faria AP. Steiner CE, et al. Am J Med Genet. 2002 Dec 15;113(4):381-4. doi: 10.1002/ajmg.b.10787. Am J Med Genet. 2002. PMID: 12457412 Review.

4

Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders.

Steiner CE, Guerreiro MM, Marques-de-Faria AP. Steiner CE, et al. Arq Neuropsiquiatr. 2003 Jun;61(2A):176-80. doi: 10.1590/s0004-282x2003000200003. Epub 2003 Jun 9. Arq Neuropsiquiatr. 2003. PMID: 12806492 Free article.

5

On macrocephaly, epilepsy, autism, specific facial features, and mental retardation.

Steiner CE, Guerreiro MM, Marques-de-Faria AP. Steiner CE, et al. Am J Med Genet A. 2003 Aug 1;120A(4):564-5. doi: 10.1002/ajmg.a.20032. Am J Med Genet A. 2003. PMID: 12884441 No abstract available.

6

Brief report: acrocallosal syndrome and autism.

Steiner CE, Guerreiro MM, Marques-de-Faria AP. Steiner CE, et al. J Autism Dev Disord. 2004 Dec;34(6):723-6. doi: 10.1007/s10803-004-5292-0. J Autism Dev Disord. 2004. PMID: 15679191

7

G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.

Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. Alexandrino F, et al. Among authors: steiner ce. Am J Med Genet A. 2005 Jul 30;136(3):282-4. doi: 10.1002/ajmg.a.30822. Am J Med Genet A. 2005. PMID: 15952212 No abstract available.

8

Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders.

Steiner CE, Guerreiro MM, Marques-de-Faria AP, Lopes-Cendes I. Steiner CE, et al. Arq Neuropsiquiatr. 2005 Sep;63(3A):564-70. doi: 10.1590/s0004-282x2005000400002. Epub 2005 Sep 9. Arq Neuropsiquiatr. 2005. PMID: 16172701 Free article.

9

Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?

Vieira T, Schwartz I, Muñoz V, Pinto L, Steiner C, Ribeiro M, Boy R, Ferraz V, de Paula A, Kim C, Acosta A, Giugliani R. Vieira T, et al. Am J Med Genet A. 2008 Jul 1;146A(13):1741-7. doi: 10.1002/ajmg.a.32320. Am J Med Genet A. 2008. PMID: 18546277

10

Ocular findings in Brazilian identical twins with Cohen syndrome: case report.

Rim PH, Figueirêdo ES, Hirata FE, Steiner CE, Marques-de-Faria AP. Rim PH, et al. Among authors: steiner ce. Arq Bras Oftalmol. 2009 Nov-Dec;72(6):815-8. doi: 10.1590/s0004-27492009000600014. Arq Bras Oftalmol. 2009. PMID: 20098905 Free article.

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