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The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040420
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- Publication type:
- Article
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
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- Clinical Genetics, 2021, v. 99, n. 4, p. 547, doi. 10.1111/cge.13912
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- Publication type:
- Article
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.
- Published in:
- 2020
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- Publication type:
- Letter
Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09547-8
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- Publication type:
- Article
Vici syndrome in Israel: Clinical and molecular insights.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991721
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- Publication type:
- Article
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 533, doi. 10.1007/s10545-018-0174-3
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- Publication type:
- Article
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.
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- NAR Genomics & Bioinformatics, 2021, v. 3, n. 3, p. 1, doi. 10.1093/nargab/lqab078
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- Publication type:
- Article
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
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- Genome Medicine, 2018, v. 10, p. 1, doi. 10.1186/s13073-017-0510-5
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- Publication type:
- Article
Front Cover, Volume 40, Issue 6.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
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- Article
NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.
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- Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
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- Publication type:
- Article
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.
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- Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098
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- Publication type:
- Article
Craniofacial features of 3q29 deletion syndrome: Application of next‐generation phenotyping technology.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2094, doi. 10.1002/ajmg.a.62227
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- Publication type:
- Article
Rubinstein–Taybi syndrome in diverse populations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2939, doi. 10.1002/ajmg.a.61888
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- Publication type:
- Article
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2021, doi. 10.1002/ajmg.a.61720
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- Publication type:
- Article
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1791, doi. 10.1002/ajmg.a.61605
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- Publication type:
- Article
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.
- Published in:
- 2021
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- Publication type:
- journal article
Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1785
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- Publication type:
- Article