Found: 10
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Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 96, doi. 10.1159/000512856
- By:
- Publication type:
- Article
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 1, doi. 10.1159/000516741
- Publication type:
- Article
Precision Medicine: from Molecular Diagnoses to Treatment Opportunities in Medical Genetics.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224
- By:
- Publication type:
- Article
Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 69, doi. 10.1159/000513217
- By:
- Publication type:
- Article
Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 87, doi. 10.1159/000513313
- By:
- Publication type:
- Article
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 112, doi. 10.1159/000513111
- By:
- Publication type:
- Article
Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 101, doi. 10.1159/000512566
- By:
- Publication type:
- Article
Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 118, doi. 10.1159/000513199
- By:
- Publication type:
- Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078
- By:
- Publication type:
- Article