28 results on '"Steiner, Carlos E."'
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2. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
3. Cognitive and behavioral heterogeneity in genetic syndromes
4. Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
5. Biallelic variants in DNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
6. Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
7. Additional EFNB1 Mutations in Craniofrontonasal Syndrome
8. Mesial Temporal Lobe Abnormalities in a Family With 15q26qter Trisomy
9. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
10. Diagnosis and Management of Classical Homocystinuria in Brazil
11. Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
12. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
13. Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
14. Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
15. <italic>CBS</italic> mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
16. The Severity of Osteogenesis Imperfecta and Type I Collagen Pattern in Human Skin as Determined by Nonlinear Microscopy: Proof of Principle of a Diagnostic Method
17. Características clínicas e moleculares de uma família Brasileira com ataxia espinocerebelar tipo 1
18. Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog
19. AdditionalEFNB1mutations in craniofrontonasal syndrome
20. No mutation in genes of the WNT signaling pathway in patients with Zimmermann–Laband syndrome
21. Gray and white matter imbalance – Typical structural abnormality underlying classic autism?
22. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
23. Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients
24. Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1
25. The Severity of Osteogenesis Imperfecta and Type I Collagen Pattern in Human Skin as Determined by Nonlinear Microscopy: Proof of Principle of a Diagnostic Method.
26. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
27. Additional EFNB1mutations in craniofrontonasal syndromeThis article is a US Government work and, as such, is in the public domain in the United States of America.How to cite this article: Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, AlTorki N, SiegelBartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. 2008. Additional EFNB1mutations in craniofrontonasal syndrome. Am J Med Genet Part A 146A:2008–2012.
28. Molecular findings in Brazilian patients with osteogenesis imperfecta.
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