Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 38, doi. 10.1159/000517978
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- Publication type:
- Article
Works matching IS 16618769 AND DT 2022 AND VI 13 AND IP 1
Results: 12
1
2
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
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- Publication type:
- Article
3
A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 80, doi. 10.1159/000518629
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- Publication type:
- Article
4
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 45, doi. 10.1159/000519099
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- Publication type:
- Article
5
Front & Back Matter.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 1, doi. 10.1159/000522350
- Publication type:
- Article
6
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 23, doi. 10.1159/000517848
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- Publication type:
- Article
7
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 69, doi. 10.1159/000517797
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- Publication type:
- Article
8
A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 64, doi. 10.1159/000517761
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- Publication type:
- Article
9
BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 12, doi. 10.1159/000517541
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- Publication type:
- Article
10
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 1, doi. 10.1159/000517605
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- Publication type:
- Article
11
Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a MAFB Missense Variant and Natural History of the Disease.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 50, doi. 10.1159/000517348
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- Publication type:
- Article
12
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 56, doi. 10.1159/000516201
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- Publication type:
- Article