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「Am J Med Genet[Journal]」の検索結果

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Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.

Phenotypic heterogeneity of ZMPSTE24 deficiency.

Risk of infantile hemangiomas in the offspring of women with autoimmune disease and the pathogenic implications of these lesions.

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome.

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Cover Image, Volume 176A, Number 2, February 2018.

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Phenotypic heterogeneity of POMT2 gene variants.

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Genetic diagnosis of Down syndrome in an underserved community.

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

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