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「Am J Med Genet[Journal]」の検索結果

21402件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.

A comparative study of magnetic resonance imaging on the gray matter and resting-state function in prodromal and first-episode schizophrenia.

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

microRNA and mRNA profiles in nucleus accumbens underlying depression versus resilience in response to chronic stress.

A novel AXIN2 gene mutation in sagittal synostosis.

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

Anti-Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy.

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.

Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

Metabolomics in patients with psychosis: A systematic review.

Possible Congenital Zika Syndrome in Older Children Due to Earlier Circulation of Zika Virus.

Behavioral and psychological features in girls and women with triple-X syndrome.

Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.

Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis.

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