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「Am J Med Genet[Journal]」の検索結果

21866件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.

KCNJ6 variants modulate reward-related brain processes and impact executive functions in attention-deficit/hyperactivity disorder.

Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper.

Expansion of the clinical spectrum associated with AARS2-related disorders.

Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.

Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report.

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Hereditary spastic paraplegia type 35 in a family from Mali.

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.

Speech difficulties and patient health communication mediating effects on worry and health-related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1.

Genome-wide analyses of psychological resilience in U.S. Army soldiers.

Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.

Acromesomelic dysplasia Maroteaux-type in patients from Vietnam.

Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria.

Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.

Phenotypic spectrum of ALPK3-related cardiomyopathy.

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