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「医療マンガ大賞」、受賞作品が決定 (日経BP)

神奈川県横浜市は今年、医療広報の一環として、漫画を活用した取り組み「医療マンガ大賞」を創設した(関連記事:医師と患者のギャップを埋める「医療マンガ大賞」創設)。...

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「Am J Med Genet A[Journal]」の検索結果

8698件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency.

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.

CHARGE syndrome in nine patients from China.

X-chromosome association studies of congenital heart defects.

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

Agenesis of the corpus callosum and hepatoblastoma.

IRF2BPL gene variants: One new case.

Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.

Blood pressure in adults with short stature skeletal dysplasias.

Wiedemann-Steiner syndrome in two patients from Portugal.

Healthcare recommendations for Joubert syndrome.

NRAS associated RASopathy and embryonal rhabdomyosarcoma.

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Myokine levels after resistance exercise in young adults with Prader-Willi syndrome (PWS).

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