Found: 30
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A Pilot Study of Gene/Gene and Gene/Environment Interactions in Alzheimer Disease.
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- Clinical Medicine & Research, 2011, v. 9, n. 1, p. 17, doi. 10.3121/cmr.2010.894
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- Article
Genetic Aspects of Congenital and Idiopathic Scoliosis.
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- Scientifica, 2012, p. 1, doi. 10.6064/2012/152365
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- Publication type:
- Article
Caudal Regression Syndrome Versus Sirenomelia: A Case Report.
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- Journal of Perinatology, 2002, v. 22, n. 2, p. 168, doi. 10.1038/sj.jp.7210598
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- Article
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
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- Scoliosis (17487161), 2007, v. 2, p. 1, doi. 10.1186/1748-7161-2-13
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- Publication type:
- Article
A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1078
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- Article
TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972
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- Publication type:
- Article
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 253, doi. 10.1002/ajmg.a.38550
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- Publication type:
- Article
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2808, doi. 10.1002/ajmg.a.38395
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- Publication type:
- Article
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2776, doi. 10.1002/ajmg.a.38379
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- Article
Marfan syndrome patient experiences as ascertained through postings on social media sites.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2629, doi. 10.1002/ajmg.a.37255
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- Publication type:
- Article
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 95, doi. 10.1002/ajmg.a.36799
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- Publication type:
- Article
MECP2 duplication: Possible cause of severe phenotype in females.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1029, doi. 10.1002/ajmg.a.36380
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- Publication type:
- Article
Novel mutation in TP 63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1432, doi. 10.1002/ajmg.a.35885
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- Publication type:
- Article
Clinical geneticists' views of VACTERL/VATER association.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3087, doi. 10.1002/ajmg.a.35638
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- Publication type:
- Article
A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations.
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- Journal of Bone & Mineral Research, 2008, v. 23, n. 10, p. 1576, doi. 10.1359/jbmr.080503
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- Publication type:
- Article
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans.
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- Annals of the New York Academy of Sciences, 2009, v. 1151, p. 38, doi. 10.1111/j.1749-6632.2008.03452.x
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- Article
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
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- Journal of International Medical Research, 2018, v. 46, n. 6, p. 2445, doi. 10.1177/0300060517747164
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- Article
David B. Schowalter, MD, PhD March 25, 1960 - August 11, 2007.
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- Wisconsin Medical Journal, 2007, v. 106, n. 8, p. 433
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- Article
Fanconi anemia: a model for genetic causes of abnormal brain development.
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- 1992
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- Publication type:
- journal article
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
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- Human Molecular Genetics, 2023, v. 32, n. 19, p. 2913, doi. 10.1093/hmg/ddad117
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- Article
Abnormal vertebral segmentation and the notch signaling pathway in man.
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- Developmental Dynamics, 2007, v. 236, n. 6, p. 1456, doi. 10.1002/dvdy.21182
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- Article
Assessment of bone mineral density in adults and children with Marfan syndrome.
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- Osteoporosis International, 2003, v. 14, n. 7, p. 559
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- Publication type:
- Article
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
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- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1110, doi. 10.1093/hmg/ddp008
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- Publication type:
- Article
Overview of Gene Special Issue "Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis".
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- Genes, 2022, v. 13, n. 7, p. 1194, doi. 10.3390/genes13071194
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- Publication type:
- Article
The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
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- Genes, 2021, v. 12, n. 8, p. 1220, doi. 10.3390/genes12081220
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- Publication type:
- Article
A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.
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- Genes, 2021, v. 12, n. 7, p. 1052, doi. 10.3390/genes12071052
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- Article
Fetal thoracic measurements in prenatal diagnosis of Jeune syndrome.
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- 2002
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- Publication type:
- journal article
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
- Published in:
- 2003
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- Publication type:
- Erratum
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
- Published in:
- Human Mutation, 2003, v. 21, n. 2, p. 158, doi. 10.1002/humu.10166
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- Publication type:
- Article
A novel locus for adolescent idiopathic scoliosis on chromosome 12p.
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- Journal of Orthopaedic Research, 2009, v. 27, n. 10, p. 1366, doi. 10.1002/jor.20885
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- Publication type:
- Article