Found: 16
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Serologically D-negative blood donors in Thailand: molecular variants and diagnostic strategy.
- Published in:
- Blood Transfusion (17232007), 2023, v. 21, n. 3, p. 209, doi. 10.2450/2022.0160-22
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- Article
From the investigation of RHD-CE hybrid genes to the recognition of RHCE variants and RHD zygosity. Expanding the analysis by QMPSF in Brazilian donors and in patients with sickle cell disease.
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- Blood Transfusion (17232007), 2023, v. 21, n. 3, p. 202, doi. 10.2450/2022.0028-22
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- Article
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
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- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00342-3
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- Article
A novel complex RHD(L62F,A137V,N152T)-CE(6-7(G336C))-D allele in a patient of African ancestry.
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- Transfusion, 2022, v. 62, n. 9, p. E49, doi. 10.1111/trf.17044
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- Article
Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.
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- Transfusion, 2012, v. 52, n. 4, p. 759, doi. 10.1111/j.1537-2995.2011.03350.x
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- Article
Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.
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- Transfusion, 2007, v. 47, n. 5, p. 858, doi. 10.1111/j.1537-2995.2005.00631.x-i1
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- Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
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- Article
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
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- Clinical Genetics, 2021, v. 100, n. 4, p. 396, doi. 10.1111/cge.14017
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- Article
Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.
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- Clinical Genetics, 2021, v. 100, n. 4, p. 386, doi. 10.1111/cge.14015
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- Article
High-Throughput Analysis of Promoter Occupancy Reveals New Targets for Arx, a Gene Mutated in Mental Retardation and Interneuronopathies.
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- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025181
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- Article
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
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- Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196
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- Article
Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
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- Human Mutation, 2012, v. 33, n. 8, p. 1239, doi. 10.1002/humu.22103
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- Article
3q29 duplications: A cohort of 46 patients and a literature review.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
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- Article
An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63532
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- Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
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- Article
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1444, doi. 10.1002/ajmg.a.38180
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- Article