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FOXP1-related intellectual disability syndrome : a recognisable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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FOXP1-related intellectual disability syndrome : a recognizable entity
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
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- Journal Article
- A1
- open access
Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
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Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
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High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
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High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
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High-resolution breakpoint mapping of 10 regulatory and 32 FOXL2 encompassing deletions in BPES using targeted microarrays
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Mitotic microhomology-mediated replication-based mechanisms underlie non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain
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High-resolution breakpoint mapping of 38 regulatory and FOXL2 encompassing deletions in BPES using targeted microarrays
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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome