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You searched for: Author/Creator Graham, Brett H.

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1. An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. Issue 7 (19th May 2020)

2. An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. Issue 12 (12th September 2019)

5. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Issue 10 (10th July 2019)

6. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Issue 5 (14th April 2015)

7. Expanding the Molecular and Clinical Phenotype of SSR4‐CDG. Issue 11 (27th August 2015)

8. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Issue 10 (10th July 2017)

9. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Issue 4 (8th February 2021)

10. Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. Issue 5 (17th October 2016)