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1. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

2. OXR1 maintains the retromer to delay brain aging under dietary restriction

3. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

4. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases

5. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

6. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

7. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

8. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

9. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

10. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

11. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

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

13. The expanding clinical and genetic spectrum of DYNC1H1-related disorders

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

15. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

16. Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

17. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

18. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

19. Defining the phenotypic spectrum of SLC6A1 mutations

20. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

21. Growth charts in DYRK1A syndrome

22. Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.

24. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

25. Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up

27. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

28. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

29. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

30. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

31. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

32. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

33. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

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

35. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

36. Congenital immobility and stiffness related to biallelic ATAD1 variants

37. Growth charts in DYRK1A syndrome.

38. Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

41. Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia

42. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

43. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

44. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

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

46. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

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

48. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

49. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

50. Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

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