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Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 401, doi. 10.1007/s00439-010-0863-y
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- Article
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
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- Human Genetics, 2006, v. 120, n. 4, p. 501, doi. 10.1007/s00439-006-0235-9
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- Article
Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene.
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- Human Genetics, 2000, v. 106, n. 1, p. 127, doi. 10.1007/s004390051020
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- Publication type:
- Article
Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), +mar by molecular cytogenetics.
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- Clinical Genetics, 1992, v. 42, n. 6, p. 323, doi. 10.1111/j.1399-0004.1992.tb03266.x
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- Article
Single maxillary central incisor and coloboma in hypomelanosis of Ko.
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- Clinical Genetics, 1987, v. 31, n. 6, p. 370, doi. 10.1111/j.1399-0004.1987.tb02826.x
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- Publication type:
- Article
Two different structural abnormalities of chromosome 13 in offspring of chromo-somally normal parents with two fragile sites.
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- Clinical Genetics, 1983, v. 23, n. 5, p. 380, doi. 10.1111/j.1399-0004.1983.tb00450.x
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- Article
A framework for the evaluation of patients with congenital facial weakness.
- Published in:
- 2021
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- Publication type:
- journal article
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 6, p. 503, doi. 10.1111/j.1399-0004.2005.00438.x
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- Publication type:
- Article
Immunologic Properties of Epstein-Barr Virus-Seronegative Adults.
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- Journal of Infectious Diseases, 1996, v. 173, n. 5, p. 1248, doi. 10.1093/infdis/173.5.1248
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- Article
Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings.
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- Ultrasound in Obstetrics & Gynecology, 1999, v. 14, n. 6, p. 426, doi. 10.1046/j.1469-0705.1999.14060426.x
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- Publication type:
- Article
Maternal transmission effects of the PAX genes among cleft case–parent trios from four populations.
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- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 831, doi. 10.1038/ejhg.2008.250
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- Publication type:
- Article
The effect of a Beare- Stevenson syndrome Fgfr2 Y394 C mutation on early craniofacial bone volume and relative bone mineral density in mice.
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- Journal of Anatomy, 2012, v. 221, n. 5, p. 434, doi. 10.1111/j.1469-7580.2012.01555.x
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- Publication type:
- Article
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
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- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 1, p. 96, doi. 10.1597/11-132
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- Article
Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management.
- Published in:
- 1992
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- Publication type:
- journal article
Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors.
- Published in:
- Development Genes & Evolution, 2007, v. 217, n. 11/12, p. 783, doi. 10.1007/s00427-007-0187-7
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- Publication type:
- Article
Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060439
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- Publication type:
- Article
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
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- Muscle & Nerve, 2021, v. 63, n. 4, p. 516, doi. 10.1002/mus.27159
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- Publication type:
- Article
Hemolytic anemia after kidney transplantation: case report and differential diagnosis.
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- Annals of Hematology, 2002, v. 81, n. 3, p. 158, doi. 10.1007/s00277-001-0425-4
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- Publication type:
- Article
Expression of C-Reactive Protein by Renal Cell Carcinomas and Unaffected Surrounding Renal Tissue.
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- Kidney & Blood Pressure Research, 2004, v. 27, n. 5/6, p. 398
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- Publication type:
- Article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation.
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- Human Molecular Genetics, 2001, v. 10, n. 15, p. 1591, doi. 10.1093/hmg/10.15.1591
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- Article
The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis (Communicated by Mark H. Paalman).
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- Human Mutation, 2004, v. 23, n. 3, p. 222, doi. 10.1002/humu.10314
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- Publication type:
- Article
A Rare Clinical Course of Seronegative Pulmonary-Renal Syndrome.
- Published in:
- Case Reports in Critical Care, 2016, p. 1, doi. 10.1155/2016/4893496
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- Publication type:
- Article
Chromosomal localization<sup>1</sup> of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to13q12→q14.
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- Cytogenetics & Cell Genetics, 1999, v. 84, n. 1/2, p. 128, doi. 10.1159/000015238
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- Article
Genotype–Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
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- Laryngoscope, 2021, v. 131, n. 4, p. E1349, doi. 10.1002/lary.29060
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- Publication type:
- Article
Verbindungen der L-Ascorbinsäure mit Metallen. IV. Ligandeigenschaften des Monoanions der L-Ascorbinsäure, C<sub>6</sub>H<sub>7</sub>O<sub>6</sub><sup>−</sup>.
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- Zeitschrift für Anorganische und Allgemeine Chemie, 1986, v. 538, n. 7, p. 166, doi. 10.1002/zaac.19865380717
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- Article
Verbindungen der L-Ascorbinsäure mit Metallen. II. Titanylascorbate.
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- Zeitschrift für Anorganische und Allgemeine Chemie, 1984, v. 514, n. 7, p. 185, doi. 10.1002/zaac.19845140723
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- Publication type:
- Article
Verbindungen der L-Ascorbinsäure mit Metallen. I. Zur Darstellung von Ascorbatkomplexen einiger 3d-Elemente.
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- Zeitschrift für Anorganische und Allgemeine Chemie, 1984, v. 514, n. 7, p. 179, doi. 10.1002/zaac.19845140722
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- Publication type:
- Article
Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.
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- 1997
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- Publication type:
- journal article
Insurance status and mortality among patients with AIDS.
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- HIV Medicine, 2018, v. 19, n. 1, p. 7, doi. 10.1111/hiv.12531
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- Publication type:
- Article
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
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- Publication type:
- Article
Frontal and Caudate Alterations in Velocardiofacial Syndrome (Deletion at Chromosome 22qll.2).
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- Journal of Child Neurology, 2004, v. 19, n. 5, p. 337, doi. 10.1177/088307380401900506
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- Publication type:
- Article
Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.
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- Frontiers in Human Neuroscience, 2017, p. 1, doi. 10.3389/fnhum.2017.00369
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- Publication type:
- Article