Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 6
Results: 13
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 1, doi. 10.1159/000528949
- Publication type:
- Article
Contents.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. I, doi. 10.1159/000528675
- Publication type:
- Article
Acknowledgement to Reviewers.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 551, doi. 10.1159/000528674
- Publication type:
- Article
COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 511, doi. 10.1159/000525047
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- Article
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 485, doi. 10.1159/000525020
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- Article
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel.
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- Molecular Syndromology, 2022, v. 13, n. 6, p. 543, doi. 10.1159/000524844
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- Publication type:
- Article
Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1.
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- Molecular Syndromology, 2022, v. 13, n. 6, p. 496, doi. 10.1159/000524710
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- Publication type:
- Article
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions.
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- Molecular Syndromology, 2022, v. 13, n. 6, p. 537, doi. 10.1159/000524703
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- Publication type:
- Article
Hydrocephalus and Growth Retardation: A Fetal RNU4ATAC-opathy Missed by Whole-Exome Sequencing.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 522, doi. 10.1159/000524501
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- Publication type:
- Article
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.
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- Molecular Syndromology, 2022, v. 13, n. 6, p. 517, doi. 10.1159/000524375
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- Publication type:
- Article
Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.
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- Molecular Syndromology, 2022, v. 13, n. 6, p. 527, doi. 10.1159/000524371
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- Publication type:
- Article
Biallelic Novel USP53 Splicing Variant Disrupting the Gene Function that Causes Cholestasis Phenotype and Review of the Literature.
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- Molecular Syndromology, 2022, v. 13, n. 6, p. 471, doi. 10.1159/000523937
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- Publication type:
- Article
Gene Mutations in Cushing's Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 459, doi. 10.1159/000524267
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- Publication type:
- Article