A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 294, doi. 10.1159/000515928
- By:
- Publication type:
- Article
Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 5
Results: 10
1
2
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 1, doi. 10.1159/000519312
- Publication type:
- Article
3
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 321, doi. 10.1159/000516635
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- Publication type:
- Article
4
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 279, doi. 10.1159/000516607
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- Publication type:
- Article
5
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 327, doi. 10.1159/000516606
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- Publication type:
- Article
6
An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 312, doi. 10.1159/000516323
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- Publication type:
- Article
7
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 305, doi. 10.1159/000516058
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- Publication type:
- Article
8
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 300, doi. 10.1159/000515941
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- Publication type:
- Article
9
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 269, doi. 10.1159/000515697
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- Publication type:
- Article
10
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 5, p. 289, doi. 10.1159/000515696
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- Publication type:
- Article