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「Am J Med Genet[Journal]」の検索結果

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MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Recent advances in understanding inheritance of holoprosencephaly.

Is BDNF-Val66Met polymorphism associated with psychotic experiences and psychotic disorder outcome? Evidence from a 6 years prospective population-based cohort study.

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.

Molecular testing in holoprosencephaly.

Prenatal diagnosis of holoprosencephaly.

Syndromes associated with holoprosencephaly.

Holoprosencephaly in the genomics era.

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature.

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Modeling the complex etiology of holoprosencephaly in mice.

Holoprosencephaly: A clinical genomics perspective.

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.

MTHFR regulatory effects on methylation of CG05575921 in response to smoking: Effects are also discernable using MTHFR expression.

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.

Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.

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