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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006
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- Article
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2015, v. 159, n. 2, p. 333, doi. 10.5507/bp.2015.003
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- Article
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1245, doi. 10.3390/jcm9051245
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- Article
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1263
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- Article
11p15 duplication and 13q34 deletion with Beckwith- Wiedemann syndrome and factor VII deficiency.
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- Pediatrics International, 2015, v. 57, n. 3, p. 486, doi. 10.1111/ped.12611
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- Article
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1647, doi. 10.1002/ajmg.a.37641
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- Article
The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2541, doi. 10.1002/ajmg.a.36686
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- Article
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-Additional case and data's review.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 172, doi. 10.1002/ajmg.a.35654
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- Article
Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 922, doi. 10.1002/ajmg.a.34440
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- Article
DNA Oxidative Cleavage Induced by the Novel Peptide Derivatives of 3-(quinoxalin-6-yl)alanine in Combination with Cu(II) or Fe(II) Ions.
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- Bioinorganic Chemistry & Applications, 2009, v. 2009, p. 1, doi. 10.1155/2009/906836
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- Publication type:
- Article