Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 1, doi. 10.1159/000506410
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 1
Results: 9
1
2
Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 15, doi. 10.1159/000506032
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- Publication type:
- Article
3
Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 56, doi. 10.1159/000505887
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- Publication type:
- Article
4
Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 50, doi. 10.1159/000505886
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- Publication type:
- Article
5
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 24, doi. 10.1159/000505843
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- Publication type:
- Article
6
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 4, doi. 10.1159/000505800
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- Publication type:
- Article
7
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.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 30, doi. 10.1159/000505797
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- Publication type:
- Article
8
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 43, doi. 10.1159/000505506
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- Publication type:
- Article
9
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 1, p. 38, doi. 10.1159/000505141
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- Publication type:
- Article