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「Am J Med Genet[Journal]」の検索結果

21270件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

A data-driven investigation of relationships between bipolar psychotic symptoms and schizophrenia genome-wide significant genetic loci.

Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Choroid plexus hyperplasia and chromosome 9p gains.

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Barakat syndrome revisited.

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.

RASopathies are associated with a distinct personality profile.

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Preventing discrimination based on psychiatric risk biomarkers.

Tumor necrosis factor-alpha -1031T/C polymorphism is associated with cognitive deficits in chronic schizophrenia patients versus healthy controls.

Evidence for additionally increased apoptosis in the peripheral blood mononuclear cells of major depressive patients with a high risk for suicide.

FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Genome-wide analysis of adolescent psychotic-like experiences shows genetic overlap with psychiatric disorders.

Genetic counselors on the frontline of precision health.

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