Search

Your search keyword '"Haye, Damien"' showing total 42 results

Search Constraints

Start Over You searched for: Author "Haye, Damien" Remove constraint Author: "Haye, Damien"
42 results on '"Haye, Damien"'

Search Results

1. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

2. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

3. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

4. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

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

7. Searching for secondary findings: considering actionability and preserving the right not to know

8. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

9. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

10. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

11. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

12. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

13. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

14. Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis

15. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

16. Perinatal presentations of nonimmune hydrops fetalis due to biallelic pathogenic variants in PIEZO1: underdiagnosed?

17. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

18. Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

19. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination

20. GM3 synthase deficiency in non-Amish patients

21. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

22. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

23. Neurological outcome in WDR62 primary microcephaly

25. Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

26. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

27. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.

28. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

29. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

30. Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study

31. Confirmation of FZD5implication in a cohort of 50 patients with ocular coloboma

32. A framework to identify contributing genes in patients with Phelan-McDermid syndrome

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

34. Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

35. A framework to identify modifier genes in patients with Phelan-McDermid syndrome

36. Further delineation of the KAT6B molecular and phenotypic spectrum

38. Further delineation of the KAT6B molecular and phenotypic spectrum

39. Further delineation of the KAT6B molecular and phenotypic spectrum

40. A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

41. Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

42. Further delineation of the KAT6B molecular and phenotypic spectrum.

Catalog

Books, media, physical & digital resources