A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 206, doi. 10.1159/000519557
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- Publication type:
- Article
Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 3
Results: 13
1
2
Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 200, doi. 10.1159/000519364
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- Publication type:
- Article
3
Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 193, doi. 10.1159/000519256
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- Publication type:
- Article
4
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 235, doi. 10.1159/000519149
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- Publication type:
- Article
5
Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 240, doi. 10.1159/000520502
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- Publication type:
- Article
6
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 1, doi. 10.1159/000524812
- Publication type:
- Article
7
Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 175, doi. 10.1159/000520333
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- Publication type:
- Article
8
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 221, doi. 10.1159/000520134
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- Publication type:
- Article
9
A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 254, doi. 10.1159/000519965
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- Publication type:
- Article
10
X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 246, doi. 10.1159/000519640
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- Publication type:
- Article
11
New Report of a Different Clinical Presentation of CD151 Splicing Mutation (c.351+2T>C): Could TSPAN11 be Considered as a Potential Modifier Gene for CD151?
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 212, doi. 10.1159/000519633
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- Publication type:
- Article
12
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 226, doi. 10.1159/000519604
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- Publication type:
- Article
13
Clinical Implications of Chromosome 16 Copy Number Variation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 3, p. 184, doi. 10.1159/000517762
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- Publication type:
- Article