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Your search keyword '"Amiel, J."' showing total 24 results

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24 results on '"Amiel, J."'

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2. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

3. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

4. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

7. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

17. Clinical reappraisal of SHORT syndrome withPIK3R1mutations: toward recommendation for molecular testing and management

18. Nager syndrome: confirmation ofSF3B4haploinsufficiency as the major cause

20. Familial CHARGE syndrome because ofCHD7mutation: clinical intra- and interfamilial variability

21. Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.

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

23. First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

24. Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

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