Found: 19
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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
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- Molecular Syndromology, 2020, v. 11, n. 1, p. 30, doi. 10.1159/000505797
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- Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
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- Human Genetics, 2020, v. 139, n. 11, p. 1363, doi. 10.1007/s00439-020-02175-x
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- Article
TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 331, doi. 10.1038/jhg.2009.34
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- Article
CHARGEd with neural crest defects.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 478, doi. 10.1002/ajmg.c.31584
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- Article
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 652, doi. 10.1002/ajmg.a.34439
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- Article
Using Xenopus to analyze neurocristopathies like Kabuki syndrome.
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- Genesis: The Journal of Genetics & Development, 2021, v. 59, n. 1/2, p. 1, doi. 10.1002/dvg.23404
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- Article
Identification and Characterization of FAM124B as a Novel Component of a CHD7 and CHD8 Containing Complex.
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- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052640
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- Article
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.
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- Human Genetics, 2014, v. 133, n. 8, p. 997, doi. 10.1007/s00439-014-1444-2
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- Article
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0410-4
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- Article
Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.893605
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- Article
CHARGE syndrome and related disorders: a mechanistic link.
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- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2215, doi. 10.1093/hmg/ddab183
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- Article
CHARGE syndrome and related disorders: a mechanistic link.
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- Human Molecular Genetics, 2021, v. 30, n. 23, p. 2215, doi. 10.1093/hmg/ddab183
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- Article
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
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- Human Molecular Genetics, 2018, v. 27, n. 8, p. 1343, doi. 10.1093/hmg/ddy045
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- Article
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
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- Human Molecular Genetics, 2014, v. 23, n. 16, p. 4396, doi. 10.1093/hmg/ddu156
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- Article
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0074-7
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- Article
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
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- Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809
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- Article
Investigation of citrullinemia type I variants by in vitro expression studies.
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- Human Mutation, 2008, v. 29, n. 10, p. 1222, doi. 10.1002/humu.20784
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- Article
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.
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- Human Molecular Genetics, 2010, v. 19, n. 14, p. 2858, doi. 10.1093/hmg/ddq189
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- Article
Mutation analysis in patients with N-acetylglutamate synthase deficiency(Communicated by Andreas Gal).
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- Human Mutation, 2003, v. 21, n. 6, p. 593
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- Article