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You searched for: Author/Creator Hofstra, Robert M.W.

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1. Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy. (September 2019)

2. Brush border myosin Ia inactivation in gastric but not endometrial tumors. Issue 8 (20th October 2012)

3. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions. Issue 1 (22nd October 2012)

4. High Frequency of RPL22 Mutations in Microsatellite‐Unstable Colorectal and Endometrial Tumors. Issue 12 (December 2014)

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

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

7. Paroxysmal exercise‐induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Issue 7 (19th April 2016)

9. Small-bowel Surveillance in Patients With Peutz-Jeghers Syndrome: Comparing Magnetic Resonance Enteroclysis and Double Balloon Enteroscopy. Issue 4 (April 2017)