26 results on '"Chalhoub, Nader"'
Search Results
2. Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant
3. Recurrent Genomic Alterations Characterize Medulloblastoma Arising from DNA Double-Strand Break Repair Deficiency
4. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia
5. Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum
6. Systems Biology Analysis of Human Genomes Points to Key Pathways Conferring Spina Bifida Risk
7. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
8. Physical and transcriptional map of the mouse Chromosome 10 proximal region syntenic to human 6q16-q21
9. S6k1 is not required for Pten-deficient neuronal hypertrophy
10. Novel mutations target distinct subgroups of medulloblastoma
11. Linkage disequilibrium and founder effect analysis of the NF1 gene in French Canadians from the Quebec population
12. Additional file 4: of NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
13. Additional file 2: of NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
14. Additional file 1: of NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
15. Additional file 3: of NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
16. Cell type specificity of PI3K signaling in Pdk1- and Pten-deficient brains
17. NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
18. Identification par clonage positionnel du gène grey-lethal (gl) chez la souris
19. Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance
20. PTEN and the PI3-Kinase Pathway in Cancer
21. Severe Malignant Osteopetrosis Caused by a GL Gene Mutation
22. Étude génétique de la neurofibromatose de type 1 : diagnostic moléculaire et recherche de mutations
23. Genotype analysis of the NF1 gene in the French Canadians from the Québec population
24. Genotype analysis of theNF1 gene in the French Canadians from the Qu�bec population
25. Severe Malignant Osteopetrosis Caused by a GLGene Mutation
26. Genotype analysis of the <TOGGLE>NF1</TOGGLE> gene in the French Canadians from the Québec population
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