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「Am J Med Genet A[Journal]」の検索結果

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Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience.

Expanding the phenotypic spectrum associated with DPF2: A new case report.

Expanding the phenotype of intellectual disability caused by HIVEP2 variants.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Delineating the expanding phenotype associated with SCAPER gene mutation.

Skin picking disorder in 97 Italian and Spanish Cri du chat patients.

A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case.

Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.

Gastrointestinal disorders in Down syndrome.

Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.

Clinical features and mutational analysis in 114 young children with Wilson disease from South China.

Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.

RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis.

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