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「Am J Med Genet A[Journal]」の検索結果

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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

Broken bones and irresponsible testimony?

Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features.

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.

Psychosocial Risks Minimal with Genetic Testing.

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Do individuals with Angelman syndrome have a maladaptive behavior?

Obituary: Antonio Richieri-Costa (1946-2019).

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

Novel dominant K channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping.

The first case of a non-infertile female patient with Pitt-Hopkins syndrome.

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