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「Am J Med Genet[Journal]」の検索結果

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"Like parent, like child": Attention deficit hyperactivity disorder-like characteristics in parents of ADHD cases.

DNA methylation of FKBP5 and response to exposure-based psychological therapy.

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

Tuberous sclerosis complex.

Convergent analysis of genome-wide genotyping and transcriptomic data suggests association of zinc finger genes with lithium response in bipolar disorder.

Ethnic variation of IL-4 intron 3 VNTR gene polymorphism; its association with type 2 diabetes mellitus and its complication (neuropathy) in Egyptian subjects.

Copy number variation and neuropsychiatric problems in females and males in the general population.

Biobehavioral composite of social aspects of anxiety in young adults with fragile X syndrome contrasted to autism spectrum disorder.

mTOR inhibitor therapy as a disease modifying therapy for tuberous sclerosis complex.

Renal manifestation of tuberous sclerosis complex.

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy.

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Schaaf-Yang syndrome overview: Report of 78 individuals.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.

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