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「Am J Med Genet[Journal]」の検索結果

22200件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Tatton-Brown-Rahman syndrome: Six individuals with novel features.

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.

Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.

Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging.

Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.

Estimated birth prevalence of mucopolysaccharidoses in Brazil.

Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Investigation of de novo variation in pediatric cardiomyopathy.

Morphological characterization of newborns in Kinshasa, DR Congo: Common variants, minor, and major anomalies.

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