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「Am J Med Genet[Journal]」の検索結果

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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Broken bones and irresponsible testimony?

Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule.

Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

A screen of 1,049 schizophrenia and 30 Alzheimer's-associated variants for regulatory potential.

Psychosocial Risks Minimal with Genetic Testing.

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Do individuals with Angelman syndrome have a maladaptive behavior?

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

Obituary: Antonio Richieri-Costa (1946-2019).

Treatment and outcomes of arthrogryposis in the lower extremity.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.

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