7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 52, doi. 10.1159/000481972
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- Publication type:
- Article
Works matching IS 16618769 AND DT 2017 AND VI 9 AND IP 1
Results: 9
1
2
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 45, doi. 10.1159/000479177
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- Publication type:
- Article
3
Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 38, doi. 10.1159/000479949
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- Publication type:
- Article
4
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 30, doi. 10.1159/000480159
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- Publication type:
- Article
5
Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 25, doi. 10.1159/000481897
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- Publication type:
- Article
6
A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 22, doi. 10.1159/000479359
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- Publication type:
- Article
7
Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 15, doi. 10.1159/000484427
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- Publication type:
- Article
8
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 5, doi. 10.1159/000480458
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- Publication type:
- Article
9
Scratching the Surface of Werner Syndrome and Human Ageing.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 1, doi. 10.1159/000484424
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- Publication type:
- Article