Front & Back Matter.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 1, doi. 10.1159/000538679
- Publication type:
- Article
Works matching IS 16618769 AND DT 2024 AND VI 15 AND IP 2
Results: 14
1
2
Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 104, doi. 10.1159/000535253
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- Publication type:
- Article
3
A Novel Variant in AKAP9 Gene, a Controversial Gene, in Long QT Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 136, doi. 10.1159/000534624
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- Publication type:
- Article
4
Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 125, doi. 10.1159/000534432
- By:
- Publication type:
- Article
5
Detecting a Novel NOTCH3 Variant in Patients with Suspected CADASIL: A Single Center Study.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 89, doi. 10.1159/000534243
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- Publication type:
- Article
6
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 167, doi. 10.1159/000535057
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- Publication type:
- Article
7
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 149, doi. 10.1159/000534772
- By:
- Publication type:
- Article
8
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 114, doi. 10.1159/000535144
- By:
- Publication type:
- Article
9
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 130, doi. 10.1159/000534587
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- Publication type:
- Article
10
A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 156, doi. 10.1159/000534932
- By:
- Publication type:
- Article
11
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 143, doi. 10.1159/000534785
- By:
- Publication type:
- Article
12
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 119, doi. 10.1159/000534031
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- Publication type:
- Article
13
Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 96, doi. 10.1159/000533894
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- Publication type:
- Article
14
Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 161, doi. 10.1159/000533733
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- Publication type:
- Article