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3. CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. (1st March 2016)

4. Defining the phenotypical spectrum associated with variants in TUBB2A. Issue 1 (22nd June 2020)

5. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Issue 11 (16th September 2020)

6. Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy. Issue 17 (27th March 2023)

7. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. Issue 6 (25th May 2017)

8. Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene. Issue 6 (June 2017)

9. Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. (November 2021)

10. Novel no‐stop FLNA mutation causes multi‐organ involvement in males. Issue 9 (19th July 2013)