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29 results on '"Arpin, Stéphanie"'

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1. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

2. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

3. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

4. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

5. DLG4-related synaptopathy: a new rare brain disorder

6. 3q29 duplications: A cohort of 46 patients and a literature review

7. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

8. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

9. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

11. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

12. Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

13. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

14. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

15. Autosomal recessive primary microcephaly due to ASPM mutations: An update

16. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

17. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

18. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

19. Syndrome tricho-rhino-phalangien de type I : Description clinique et moléculaire chez 15 cas non apparentés

20. Delineating FOXG1 syndrome

21. DelineatingFOXG1syndrome

22. Autosomal recessive primary microcephaly due to ASPM mutations: An update

23. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

24. Autosomal recessive primary microcephaly due to <italic>ASPM</italic> mutations: An update.

25. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

26. Floating-Harbor Syndrome

27. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

28. Autosomal recessive primary microcephaly due to ASPM mutations: An update

29. Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

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