Works matching IS 16618769 AND DT 2018 AND VI 9 AND IP 5
Results: 10
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. N.PAG, doi. 10.1159/000495224
- Publication type:
- Article
Michael Schmid (1948-2018): A Life Devoted to Science.
- Published in:
- 2018
- By:
- Publication type:
- Obituary
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 253, doi. 10.1159/000493174
- By:
- Publication type:
- Article
The Right Gene, Expressed at the Wrong Time, or at the Wrong Place.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 235, doi. 10.1159/000492516
- By:
- Publication type:
- Article
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 228, doi. 10.1159/000492418
- By:
- Publication type:
- Article
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 259, doi. 10.1159/000492267
- By:
- Publication type:
- Article
Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 241, doi. 10.1159/000492190
- By:
- Publication type:
- Article
An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 247, doi. 10.1159/000491802
- By:
- Publication type:
- Article
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 5, p. 266, doi. 10.1159/000491568
- By:
- Publication type:
- Article