Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22).
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Works matching IS 16618769 AND DT 2020 AND VI 11 AND IP 3
Results: 11
1
2
3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Turkish Child with a Novel HIBCH Gene Mutation and Literature Review.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
3
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 3, p. 1, doi. 10.1159/000509959
- Publication type:
- Article
4
A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
5
Intrafamilial Variability in LPIN1-Related Rhabdomyolysis.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
6
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
- By:
- Publication type:
- Article
7
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
8
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
- By:
- Publication type:
- Article
9
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
- By:
- Publication type:
- Article
10
Proximal Deletion 12q with a New Insight to Growth Retardation.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
11
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
- By:
- Publication type:
- Article