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17 results on '"Mandel, Jean-Louis"'

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1. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

2. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

3. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

4. Breaking the rule of three: human genetics

5. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

6. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.

7. Fragile X syndrome.

8. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

9. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

10. 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

11. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

13. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

14. Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

15. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

16. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

17. Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes.

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