Tomoki Kosho

Chromosome Abnormalities and Genetic Counseling

A decorin-deficient matrix affects skin chondroitin/dermatan sulfate levels and keratinocyte function

The molecular hallmarks of epigenetic control

Ehlers-Danlos syndrome type IV

Growth Hormone Treatment of Non–Growth Hormone-Deficient Growth Disorders

Neutrophils at work

ClinVar: public archive of relationships among sequence variation and human phenotype

Biological roles of glycans

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Extracellular matrix structure

Myasthenia gravis

Effect of local cooling on excitation-contraction coupling in myasthenic muscle: Another mechanism of ice-pack test in myasthenia gravis

Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

Health Supervision for Children With Down Syndrome

Cystine transporter SLC7A11/xCT in cancer: ferroptosis, nutrient dependency, and cancer therapy

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics

Inactivation of the PBRM1 tumor suppressor gene amplifies the HIF-response in VHL ^−/− clear cell renal carcinoma

Guidelines for the Primary Prevention of Stroke

Protein Glycoengineering Enabled by the Versatile Synthesis of Aminooxy Glycans and the Genetically Encoded Aldehyde Tag

Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations

Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment

Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan

Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease