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「Am J Med Genet[Journal]」の検索結果

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A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.

Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study.

Genes regulated by BCL11B during T-cell development are enriched for de novo mutations found in schizophrenia patients.

Speech and language development in children with 49,XXXXY syndrome.

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

Genotype-phenotype correlation at codon 1740 of SETD2.

A study on facial features of children with Williams syndrome in China based on three-dimensional anthropometric measurement technology.

Farber disease in a patient from China.

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Knobloch syndrome in a patient from Chile.

50 years of Robinow syndrome.

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

Schimke XLID syndrome results from a deletion in BCAP31.

Complete blood count differences in a cohort of Down syndrome neonates with transient abnormal myelopoiesis screened for GATA1 pathogenic variants.

Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression.

Indian child with novel variant in OFD1 gene.

Sotos syndrome in two children from India.

Ocular measurements in fetal alcohol spectrum disorders.

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