21 results on '"Briand-Suleau, Audrey"'
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2. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
3. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant
4. Étude de 1333 patients atteints de neurofibromatose de type 1 à la recherche de modificateurs génétiques des neurofibromes cutanés, sous-cutanés et plexiformes
5. NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation
6. One NF1 Mutation may Conceal Another
7. FSHD1 and FSHD2 form a disease continuum
8. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
9. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
10. Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors
11. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
12. SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
13. Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts
14. Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
15. Sub1 and Maf1, Two Effectors of RNA Polymerase III, Are Involved in the Yeast Quiescence Cycle
16. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
17. Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
18. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome
19. KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome
20. SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
21. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
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