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「"Chevarin M "[Author]」の検索結果

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

Mosaicism for a KITLG mutation in linear and whorled nevoid hypermelanosis.

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