Found: 17
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Cutis Laxa Type II with Mutation in the Pyrroline-5-Carboxylate Reductase 1 Gene.
- Published in:
- Pediatric Dermatology, 2013, v. 30, n. 6, p. e265, doi. 10.1111/pde.12065
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- Publication type:
- Article
A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.
- Published in:
- 2012
- By:
- Publication type:
- journal article
A Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease.
- Published in:
- Iranian Biomedical Journal, 2012, v. 16, n. 4, p. 223, doi. 10.6091/ibj.1077.2012
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- Publication type:
- Article
Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate.
- Published in:
- Clinical Oral Investigations, 2018, v. 22, n. 7, p. 2535, doi. 10.1007/s00784-018-2350-0
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- Publication type:
- Article
Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.
- Published in:
- Clinical Oral Investigations, 2015, v. 19, n. 4, p. 891, doi. 10.1007/s00784-014-1305-3
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- Publication type:
- Article
ROCK1 is associated with non-syndromic cleft palate.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
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- Publication type:
- Article
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 236, doi. 10.3390/biom13020236
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- Publication type:
- Article
Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
- Published in:
- International Journal of Immunopathology & Pharmacology, 2019, v. 33, p. N.PAG, doi. 10.1177/2058738419858572
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- Publication type:
- Article
Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations.
- Published in:
- International Journal of Immunopathology & Pharmacology, 2019, p. 1, doi. 10.1177/2058738419858572
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- Publication type:
- Article
Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.
- Published in:
- Journal of Medical Ethics & History of Medicine, 2017, v. 10, n. 12, p. 1
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- Publication type:
- Article
Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.
- Published in:
- Journal of Medical Ethics & History of Medicine, 2017, v. 10, p. 1
- By:
- Publication type:
- Article
A case report of 22q11 deletion syndrome confirmed by array-CGH method.
- Published in:
- Journal of Research in Medical Sciences, 2012, v. 17, n. 3, p. 310
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- Publication type:
- Article
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 148, n. 1, p. 1, doi. 10.1159/000445089
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- Publication type:
- Article
Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.
- Published in:
- Genetics Research International, 2015, p. 1, doi. 10.1155/2015/398063
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- Publication type:
- Article
Clinical Importance of Pericentric Inversion of Chromosome 9: A Case Report of Miscarriage and Neonatal Death.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297
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- Publication type:
- Article