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82 results on '"Till, Marianne"'

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1. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication

2. Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

3. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

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

5. CLINICAL UTILITY OF SYSTEMATIC CGH-ARRAY GENETIC TESTING IN REAL WORLD SCHIZOPHRENIA

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

7. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

8. GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

9. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

10. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

11. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

12. A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

13. Growth charts in Kabuki syndrome 1

14. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

15. Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

16. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

17. Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

18. Prenatal findings in 1p36 deletion syndrome: New cases and a literature review

19. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

20. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

21. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

23. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

25. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

26. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

28. Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

30. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

32. SETD5 haploinsufficiency phenotypic refinement: Expanding the range of chromatin disorders

33. Mosaic variegated aneuploidy syndrome: Case report of two brothers

34. ARHGEF9 disease

35. Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1

38. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study

39. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

40. West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1

41. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

42. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

43. Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

47. The psychological impact of cryptic chromosomal abnormalities diagnosis announcement

48. Finger creases lend a hand in Kabuki syndrome

49. Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome

50. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia

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