Works matching IS 16618769 AND DT 2021 AND VI 12 AND IP 4
Results: 10
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 1, doi. 10.1159/000518465
- Publication type:
- Article
Publisher's Note.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 201, doi. 10.1159/000518029
- Publication type:
- Article
Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 263, doi. 10.1159/000515645
- By:
- Publication type:
- Article
First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 258, doi. 10.1159/000515400
- By:
- Publication type:
- Article
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 250, doi. 10.1159/000515081
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- Publication type:
- Article
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 219, doi. 10.1159/000515044
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- Publication type:
- Article
An 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 234, doi. 10.1159/000515043
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- Publication type:
- Article
Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBPGene.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 240, doi. 10.1159/000514531
- By:
- Publication type:
- Article
A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 244, doi. 10.1159/000513607
- By:
- Publication type:
- Article
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 4, p. 202, doi. 10.1159/000514437
- By:
- Publication type:
- Article