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You searched for: Author/Creator Signer, Rebecca

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1. 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients. Issue 5 (25th February 2021)

2. Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. Issue 2 (24th January 2019)

3. Exploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk study. Issue 8 (August 2022)

4. Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. Issue 10 (30th July 2020)

6. Novel NUDT2 variant causes intellectual disability and polyneuropathy. Issue 11 (15th October 2020)

7. P1‐123: VERY YOUNG ONSET AUTOSOMAL DOMINANT ALZHEIMER'S DISEASE WITH SPASTIC PARAPARESIS DUE TO A NOVEL (F388S) PSEN1 MUTATION. (1st July 2019)

8. Phenotype delineation of ZNF462 related syndrome. Issue 10 (30th July 2019)

9. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)