[Genetic counseling--present status and future trend]

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

Human genetics·2023

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

American journal of medical genetics. Part A·2006

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Journal of human genetics·2005

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Nature genetics·2003

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.

BMC genetics·2002

The Present Situation and Clinical Topics of Ventricular Assist Device and Heart Transplantation in Japan.

Fukuoka igaku zasshi = Hukuoka acta medica·2017

Natural Immunity and Ocular Inflammation.

Fukuoka igaku zasshi = Hukuoka acta medica·2017

Immunohistological Localization of Peroxisome Proliferator-Activated Receptor α and γ in Human Sebaceous Glands.

Fukuoka igaku zasshi = Hukuoka acta medica·2017

Molecular Mechanism of Lifestyle-related Diseases : See Both the Wood and Trees!

Fukuoka igaku zasshi = Hukuoka acta medica·2017

Portal Vein Thrombosis Repeatedly Observed in a Cirrhotic Patient with Antiphospholipid Antibody Syndrome.

Fukuoka igaku zasshi = Hukuoka acta medica·2017

Role of Natural Killer T Cells in Cardiac Remodeling and Failure and the Development of Novel Therapeutic Strategy.

Fukuoka igaku zasshi = Hukuoka acta medica·2017

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

[Genetic counseling--present status and future trend]

Related Concept Videos

Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1).

R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.

The Present Situation and Clinical Topics of Ventricular Assist Device and Heart Transplantation in Japan.

Natural Immunity and Ocular Inflammation.

Immunohistological Localization of Peroxisome Proliferator-Activated Receptor α and γ in Human Sebaceous Glands.

Molecular Mechanism of Lifestyle-related Diseases : See Both the Wood and Trees!

Portal Vein Thrombosis Repeatedly Observed in a Cirrhotic Patient with Antiphospholipid Antibody Syndrome.

Role of Natural Killer T Cells in Cardiac Remodeling and Failure and the Development of Novel Therapeutic Strategy.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

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[Genetic counseling--present status and future trend]

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