Search

Your search keyword '"Mau-Them, Frédéric Tran"' showing total 46 results

Search Constraints

Start Over You searched for: Author "Mau-Them, Frédéric Tran" Remove constraint Author: "Mau-Them, Frédéric Tran"
46 results on '"Mau-Them, Frédéric Tran"'

Search Results

1. RICTOR variants are associated with neurodevelopmental disorders

2. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

3. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

4. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

5. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

6. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

7. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

8. Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

10. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

11. The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay

12. TRIT1 deficiency: Two novel patients with four novel variants

13. SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?

14. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

15. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

16. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

17. DLG4-related synaptopathy: a new rare brain disorder

18. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

19. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

20. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

21. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

22. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

23. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

25. Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing.

26. Exome sequencing in the etiologic assessment of the stroke of the young

27. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals

28. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

29. Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?

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

32. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

33. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

34. RICTORvariants are associated with neurodevelopmental disorders

35. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

36. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

37. Systematic analysis and prediction of genes associated with disorders on chromosome X

38. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

40. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

41. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

42. Haploinsufficiency of ARFGEF1is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

43. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

44. POLR1Band neural crest cell anomalies in Treacher Collins syndrome type 4

45. Circulating Cell Free Tumor DNA Detection as a Routine Tool for Lung Cancer Patient Management.

46. Heterozygous pathogenic variants in POMCare not responsible for monogenic obesity: Implication for MC4R agonist use

Catalog

Books, media, physical & digital resources