Found: 12
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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1502
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- Article
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 549, doi. 10.1038/jhg.2014.70
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- Article
Physicians' opinion for ‘new’ genetic testing in Japan.
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- Journal of Human Genetics, 2009, v. 54, n. 4, p. 203, doi. 10.1038/jhg.2009.11
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- Article
A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
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- Journal of Human Genetics, 2006, v. 51, n. 5, p. 461, doi. 10.1007/s10038-006-0385-6
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- Article
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
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- Journal of Human Genetics, 2005, v. 50, n. 4, p. 192, doi. 10.1007/s10038-005-0239-7
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- Article
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1272, doi. 10.1002/ajmg.a.36433
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- Article
Perceptions of the Concept of Mutation among Family Members of Patients Receiving Outpatient Genetic Services and University Students.
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- Journal of Genetic Counseling, 2009, v. 18, n. 6, p. 567, doi. 10.1007/s10897-009-9244-x
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- Article
Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.
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- BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05793-4
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- Article
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00186-w
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- Article
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
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- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00166-6
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- Article
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.
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- Human Mutation, 2017, v. 38, n. 5, p. 503, doi. 10.1002/humu.23178
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- Article
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
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- Human Mutation, 2010, v. 31, n. 3, p. 284, doi. 10.1002/humu.21187
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- Article