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2. A diagnostic approach to syndromic retinal dystrophies with intellectual disability. Issue 3 (11th September 2020)

3. A novel mutation in two Hmong families broadens the range of STRA6‐related malformations to include contractures and camptodactyly. Issue 1 (16th September 2015)

4. A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. Issue 3 (27th September 2016)

5. A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. Issue 3 (22nd December 2015)

6. Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. (15th October 2019)

7. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020)

8. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021)

9. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Issue 8 (11th July 2019)

10. CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum. Issue 3 (9th December 2020)