Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 5
Results: 15
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
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- Publication type:
- Article
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 1, doi. 10.1159/000528481
- Publication type:
- Article
Expanded Phenotypic Spectrum or Multiple Syndromes?
- Published in:
- 2022
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- Publication type:
- Editorial
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
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- Publication type:
- Article
Co-Occurring Atypical Galactosemia and Wilson Disease.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 454, doi. 10.1159/000524004
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- Publication type:
- Article
Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 389, doi. 10.1159/000523956
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- Publication type:
- Article
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 402, doi. 10.1159/000523877
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- Publication type:
- Article
Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel GPD1 Mutation.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 433, doi. 10.1159/000523764
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- Publication type:
- Article
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
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- Publication type:
- Article
Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220-Associated Ventriculomegaly.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 419, doi. 10.1159/000522486
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- Publication type:
- Article
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
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- Molecular Syndromology, 2022, v. 13, n. 5, p. 381, doi. 10.1159/000522353
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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- Publication type:
- Article
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
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- Publication type:
- Article