Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 3
Results: 11
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 1, doi. 10.1159/000509959
- Publication type:
- Article
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Turkish Child with a Novel HIBCH Gene Mutation and Literature Review.
- Published in:
- 2020
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- Publication type:
- Abstract
Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22).
- Published in:
- 2020
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- Publication type:
- Abstract
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
- Published in:
- 2020
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- Publication type:
- Abstract
Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 141, doi. 10.1159/000508563
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- Publication type:
- Article
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
- Published in:
- 2020
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- Publication type:
- Abstract
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
- Published in:
- 2020
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- Publication type:
- Abstract
Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 157, doi. 10.1159/000507562
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- Publication type:
- Article
Proximal Deletion 12q with a New Insight to Growth Retardation.
- Published in:
- 2020
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- Publication type:
- Abstract
22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral Spectrum.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 146, doi. 10.1159/000507103
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- Publication type:
- Article
Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 130, doi. 10.1159/000507035
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- Publication type:
- Article