Expanded Phenotypic Spectrum or Multiple Syndromes?
- Published in:
- 2022
- By:
- Publication type:
- Editorial
Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 5
Results: 15
1
2
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 381, doi. 10.1159/000522353
- By:
- Publication type:
- Article
3
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 1, doi. 10.1159/000528481
- Publication type:
- Article
4
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 363, doi. 10.1159/000524391
- By:
- Publication type:
- Article
5
First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 447, doi. 10.1159/000524058
- By:
- Publication type:
- Article
6
Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 440, doi. 10.1159/000522352
- By:
- Publication type:
- Article
7
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 370, doi. 10.1159/000522011
- By:
- Publication type:
- Article
8
Co-Occurring Atypical Galactosemia and Wilson Disease.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 454, doi. 10.1159/000524004
- By:
- Publication type:
- Article
9
Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 397, doi. 10.1159/000521692
- By:
- Publication type:
- Article
10
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 389, doi. 10.1159/000523956
- By:
- Publication type:
- Article
11
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 402, doi. 10.1159/000523877
- By:
- Publication type:
- Article
12
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel GPD1 Mutation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 433, doi. 10.1159/000523764
- By:
- Publication type:
- Article
13
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 425, doi. 10.1159/000522532
- By:
- Publication type:
- Article
14
Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 419, doi. 10.1159/000522486
- By:
- Publication type:
- Article
15
Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 409, doi. 10.1159/000521640
- By:
- Publication type:
- Article