Front & Back Matter.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 1, doi. 10.1159/000529539
- Publication type:
- Article
Works matching IS 16618769 AND DT 2023 AND VI 14 AND IP 1
Results: 12
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Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 11, doi. 10.1159/000526381
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- Publication type:
- Article
3
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 59, doi. 10.1159/000526394
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- Publication type:
- Article
4
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 71, doi. 10.1159/000526320
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- Publication type:
- Article
5
Left Ventricular Systolic Dysfunction Related to Adrenal Insufficiency in a Case due to Autoimmune Polyendocrine Syndrome Type 1 with a Novel Variant.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 65, doi. 10.1159/000526221
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- Publication type:
- Article
6
Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 51, doi. 10.1159/000525681
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- Publication type:
- Article
7
Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 44, doi. 10.1159/000525453
- By:
- Publication type:
- Article
8
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 21, doi. 10.1159/000525434
- By:
- Publication type:
- Article
9
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 35, doi. 10.1159/000525393
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- Publication type:
- Article
10
CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 30, doi. 10.1159/000525100
- By:
- Publication type:
- Article
11
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 1, doi. 10.1159/000525247
- By:
- Publication type:
- Article
12
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 1, p. 80, doi. 10.1159/000525215
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- Publication type:
- Article