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SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 485, doi. 10.1159/000525020
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- Publication type:
- Article
Novel and Recurrent Mutations in the <bold><italic>FGFR3 </italic></bold> Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.
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- Molecular Syndromology, 2018, v. 9, n. 2, p. 92, doi. 10.1159/000486697
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- Publication type:
- Article
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
- Published in:
- Human Genetics, 2023, v. 142, n. 11, p. 1571, doi. 10.1007/s00439-023-02598-2
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- Publication type:
- Article
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 396, doi. 10.1002/ajmg.c.31937
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- Publication type:
- Article
Skeletal dysplasias in Latin America.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 986, doi. 10.1002/ajmg.c.31861
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- Publication type:
- Article
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 681, doi. 10.1002/ajmg.a.61460
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- Publication type:
- Article
In reply to “Short‐rib syndrome Beemer‐Langer type, a short history”.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1784, doi. 10.1002/ajmg.a.38841
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- Publication type:
- Article
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1186, doi. 10.1002/ajmg.a.38157
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- Publication type:
- Article
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3043, doi. 10.1002/ajmg.a.37858
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- Publication type:
- Article
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 894, doi. 10.1002/ajmg.a.36954
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- Publication type:
- Article
Non-immune hydrops fetalis: A prospective study of 53 cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3078, doi. 10.1002/ajmg.a.36171
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- Publication type:
- Article
Clinical epidemiology of skeletal dysplasias in South America.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1038, doi. 10.1002/ajmg.a.35246
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- Publication type:
- Article
Limb reduction defects in South America.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 1995, v. 102, n. 5, p. 393, doi. 10.1111/j.1471-0528.1995.tb11292.x
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- Publication type:
- Article
Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients.
- Published in:
- Cleft Palate Craniofacial Journal, 2006, v. 43, n. 2, p. 148, doi. 10.1597/04-206.1
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- Publication type:
- Article
<italic>CranFlow</italic>: An Application for Record‐Taking and Management Through the Brazilian Database on Craniofacial Anomalies.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 1, p. 72, doi. 10.1002/bdr2.1123
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- Publication type:
- Article
Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49796-5
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- Publication type:
- Article
Identification of genomic imbalances in oral clefts.
- Published in:
- Jornal de Pediatria, 2021, v. 97, n. 3, p. 321, doi. 10.1016/j.jped.2020.06.005
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- Publication type:
- Article
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
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- 2017
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- Publication type:
- journal article
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
- Published in:
- 2016
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- Publication type:
- journal article
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 5, p. 692, doi. 10.1002/jbmr.4799
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- Publication type:
- Article
Early exposure to yellow fever vaccine during pregnancy.
- Published in:
- Tropical Medicine & International Health, 2007, v. 12, n. 7, p. 833, doi. 10.1111/j.1365-3156.2007.01851.x
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- Publication type:
- Article
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
- Published in:
- Human Mutation, 2000, v. 16, n. 4, p. 315, doi. 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H
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- Publication type:
- Article