Search

Search Constraints

You searched for: Author/Creator Kriek, Marjolein

Search Results

1. A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Issue 10374 (4th February 2023)

2. ATR-16 syndrome: mechanisms linking monosomy to phenotype. Issue 6 (31st January 2020)

3. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease). Issue 5 (11th March 2013)

4. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

5. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013)

6. Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease. Issue 2 (1st August 2021)

7. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. (7th August 2018)

8. Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study. Issue 6 (August 2020)

9. GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America. Issue 5 (13th March 2013)

10. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature123. Issue 4 (26th March 2013)