36 results on '"Briand-Suleau, Audrey"'
Search Results
2. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
3. Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions
4. Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
5. FSHD1 and FSHD2 form a disease continuum
6. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
7. Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts
8. Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: A two-hit case with more severe clinical manifestations
9. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
10. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant
11. Étude de 1333 patients atteints de neurofibromatose de type 1 à la recherche de modificateurs génétiques des neurofibromes cutanés, sous-cutanés et plexiformes
12. Severe Phenotype in Patients with Large Deletions of NF1
13. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome
14. KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome
15. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
16. SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development
17. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
18. NF1-like optic pathway gliomas in children: clinical and molecular characterization of this specific presentation
19. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1Pathogenic Splicing Variant
20. One NF1 Mutation may Conceal Another
21. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
22. Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
23. Additional file 1: Table S1. of Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
24. Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors
25. SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.: Genotype-phenotype relevance in 20q13.2 gain
26. Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities
27. SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
28. Sub1 and Maf1, Two Effectors of RNA Polymerase III, Are Involved in the Yeast Quiescence Cycle
29. SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
30. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
31. Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
32. Molecular and cellular issues of KMT2Avariants involved in Wiedemann-Steiner syndrome
33. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
34. Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
35. Droplet Digital PCR for Fast and Accurate Characterization of NF1Locus Deletions
36. Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.