Search

Your search keyword '"Lehalle, Daphne"' showing total 27 results

Search Constraints

Start Over You searched for: Author "Lehalle, Daphne" Remove constraint Author: "Lehalle, Daphne"
27 results on '"Lehalle, Daphne"'

Search Results

1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

3. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

5. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis

6. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

8. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

9. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

10. Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

11. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

12. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

13. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

14. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

15. Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series

16. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

17. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

18. Genetic interstitial lung disease: an unusual case

19. Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

20. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

21. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

23. Heterozygous deletion of the LRFN2gene is associated with working memory deficits

24. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

25. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

26. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

27. Germline mutations in a G protein identify signaling cross-talk in T cells.

Catalog

Books, media, physical & digital resources