HLA study in a live-born infant with triploidy of paternal origin

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Clinical genetics·2016

Dysmorphology services: a snapshot of current practices and a vision for the future.

Clinical genetics·2015

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

Clinical genetics·2014

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

European journal of neurology·2013

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical genetics·2012

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Journal of medical genetics·2009

Four amino acid exchanges located in the alpha-2 domain specify the novel HLA-B*50:20 allele.

Tissue antigens·2015

A novel HLA-A02 variant, HLA-A02:575, detected in a Taiwanese bone marrow hematopoietic stem cell donor.

Tissue antigens·2015

Identification of a novel HLA-A*02:06:01:02 allele in a Chinese individual by sequence-based typing.

Tissue antigens·2015

Genetic variation of the MHC class II DRB genes in the Japanese weasel, Mustela itatsi, endemic to Japan, compared with the Siberian weasel, Mustela sibirica.

Tissue antigens·2015

Questionable expression of unstable DQ heterodimer containing HLA-DQA1*01:07.

Tissue antigens·2015

Characterization of bovine MHC class II DRB3 diversity in South American Holstein cattle populations.

Tissue antigens·2015

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

PloS one·2026

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

British poultry science·2026

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

Frontiers in cardiovascular medicine·2026

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

BMC genomics·2026

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Lipids·2026

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Molecular psychiatry·2026

Related Experiment Videos

HLA study in a live-born infant with triploidy of paternal origin

Related Concept Videos

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.

Dysmorphology services: a snapshot of current practices and a vision for the future.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Four amino acid exchanges located in the alpha-2 domain specify the novel HLA-B*50:20 allele.

A novel HLA-A02 variant, HLA-A02:575, detected in a Taiwanese bone marrow hematopoietic stem cell donor.

Identification of a novel HLA-A*02:06:01:02 allele in a Chinese individual by sequence-based typing.

Genetic variation of the MHC class II DRB genes in the Japanese weasel, Mustela itatsi, endemic to Japan, compared with the Siberian weasel, Mustela sibirica.

Questionable expression of unstable DQ heterodimer containing HLA-DQA1*01:07.

Characterization of bovine MHC class II DRB3 diversity in South American Holstein cattle populations.

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Related Experiment Videos

HLA study in a live-born infant with triploidy of paternal origin

Related Concept Videos

Related Articles