Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 2
Results: 14
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 1, doi. 10.1159/000530481
- Publication type:
- Article
Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 164, doi. 10.1159/000528201
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- Publication type:
- Article
Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.
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- Molecular Syndromology, 2023, v. 14, n. 2, p. 152, doi. 10.1159/000527955
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- Publication type:
- Article
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 171, doi. 10.1159/000527538
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- Publication type:
- Article
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 158, doi. 10.1159/000527424
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- Publication type:
- Article
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 181, doi. 10.1159/000527221
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- Publication type:
- Article
A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys).
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 175, doi. 10.1159/000527149
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- Publication type:
- Article
First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 143, doi. 10.1159/000526975
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- Publication type:
- Article
A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 136, doi. 10.1159/000526393
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- Publication type:
- Article
A Case of Short Stature Caused by a Mutation in the ACAN Gene.
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- Molecular Syndromology, 2023, v. 14, n. 2, p. 123, doi. 10.1159/000526166
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- Publication type:
- Article
Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 101, doi. 10.1159/000526022
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- Publication type:
- Article
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 89, doi. 10.1159/000526021
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- Publication type:
- Article
Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 109, doi. 10.1159/000525976
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- Publication type:
- Article
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 129, doi. 10.1159/000524832
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- Publication type:
- Article