Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 3
Results: 12
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 1, doi. 10.1159/000531339
- Publication type:
- Article
Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 208, doi. 10.1159/000529018
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- Article
Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 258, doi. 10.1159/000528769
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- Article
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 201, doi. 10.1159/000528651
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- Publication type:
- Article
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 231, doi. 10.1159/000528192
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- Publication type:
- Article
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 219, doi. 10.1159/000527215
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- Publication type:
- Article
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 191, doi. 10.1159/000527043
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- Publication type:
- Article
The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 239, doi. 10.1159/000527785
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- Publication type:
- Article
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 225, doi. 10.1159/000527777
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- Publication type:
- Article
Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 254, doi. 10.1159/000527524
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- Publication type:
- Article
A Genetics Study in the Foreskin of Boys with Hypospadias.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 185, doi. 10.1159/000527405
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- Publication type:
- Article
Dicentric Recombinant Chromosome 18 due to Maternal Paracentric Inversion Analyzed by Array CGH.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 246, doi. 10.1159/000527160
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- Publication type:
- Article