9 results on '"Piard, Juliette"'
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2. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
3. Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome
4. TCF12 Microdeletion in a 72-year-old Woman with Intellectual Disability
5. Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2
6. Extensive Abdominal Lipomatosis in a Patient With Noonan/LEOPARD Syndrome (Noonan Syndrome–Multiple Lentigines)†
7. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
8. Intragenic Deletion of UBE3A Gene in 2 Sisters With Angelman Syndrome Detected by MLPA
9. Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication
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