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Your search keyword '"Guillaume Jouret"' showing total 10 results

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10 results on '"Guillaume Jouret"'

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1. Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

2. Clinical Genetics of Prolidase Deficiency: An Updated Review

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3. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

4. Natural history of KBG syndrome in a large European cohort

5. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

6. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

7. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

8. Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study

9. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

10. Genetics of Usher Syndrome: New Insights From a Meta-analysis