Front & Back Matter.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. N.PAG, doi. 10.1159/000496864
- Publication type:
- Article
Works matching IS 16618769 AND DT 2018 AND VI 9 AND IP 6
Results: 11
1
2
Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 312, doi. 10.1159/000494995
- By:
- Publication type:
- Article
3
Contents Vol. 9, 2018.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. I, doi. 10.1159/000496174
- Publication type:
- Article
4
HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism.
- Published in:
- 2018
- By:
- Publication type:
- Editorial
5
8p11 Microduplication Is Associated with Neonatal Stridor.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 324, doi. 10.1159/000494796
- By:
- Publication type:
- Article
6
17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 300, doi. 10.1159/000494681
- By:
- Publication type:
- Article
7
Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 306, doi. 10.1159/000494645
- By:
- Publication type:
- Article
8
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 319, doi. 10.1159/000494465
- By:
- Publication type:
- Article
9
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 287, doi. 10.1159/000494451
- By:
- Publication type:
- Article
10
Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 279, doi. 10.1159/000494231
- By:
- Publication type:
- Article
11
Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 295, doi. 10.1159/000492706
- By:
- Publication type:
- Article