280 results on '"Till, Marianne"'
Search Results
2. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication
3. ARHGEF9 disease
4. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
5. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome
6. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
7. Additive Effect of Variably Penetrant 22Q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
8. 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
9. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
10. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
11. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
12. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
13. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
14. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
15. CLINICAL UTILITY OF SYSTEMATIC CGH-ARRAY GENETIC TESTING IN REAL WORLD SCHIZOPHRENIA
16. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
17. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination
18. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
19. GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata
20. Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion
21. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
22. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
23. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
24. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
25. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
26. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
27. Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
28. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
29. Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
30. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
31. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
32. Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy
33. Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report
34. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
35. Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling
36. An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p
37. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. (Report)
38. De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features
39. Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration
40. A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism
41. Growth charts in Kabuki syndrome 1
42. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
43. Ring 14 chromosome presenting as early-onset isolated partial epilepsy
44. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
45. GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.
46. Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature
47. Prenatal findings in 1p36 deletion syndrome: New cases and a literature review
48. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
49. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
50. Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.