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「Am J Med Genet[Journal]」の検索結果

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Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

Solid tumor screening recommendations in trisomy 18.

The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy.

Abnormal bone mineral content and density in people with tetrasomy 18p.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

ADHD risk genes involved in dopamine signaling and metabolism are associated with reduced estimated life expectancy at young adult follow-up in hyperactive and control children.

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.

Conference summary: What we have learned and where we are headed.

"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.

Clinical update on sensorineural hearing loss in Turner syndrome and the X-chromosome.

22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.

Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study.

High-level language competencies and Theory of Mind in a group of children with Klinefelter syndrome.

A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.

Cornelia de Lange syndrome in diverse populations.

In This Issue.

Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

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