166 results on '"Till, Marianne"'
Search Results
2. ARHGEF9 disease
3. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
4. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome
5. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
6. Additive Effect of Variably Penetrant 22Q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
7. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
8. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
9. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
10. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
11. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
12. Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
13. Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
14. Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion
15. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
16. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
17. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
18. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
19. Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome
20. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
21. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
22. Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy
23. Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report
24. Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes
25. Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling
26. An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p
27. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. (Report)
28. De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features
29. Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration
30. Ring 14 chromosome presenting as early-onset isolated partial epilepsy
31. Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
32. GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata.
33. CLINICAL UTILITY OF SYSTEMATIC CGH-ARRAY GENETIC TESTING IN REAL WORLD SCHIZOPHRENIA
34. Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
35. Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease
36. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization.
37. A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
38. Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
39. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
40. The psychological impact of cryptic chromosomal abnormalities diagnosis announcement
41. Finger creases lend a hand in Kabuki syndrome
42. Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia
43. Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.
44. Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences.
45. Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.
46. Development of a new panel of 9 steroids in amniotic fluid in LC–MSMS
47. Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
48. Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.
49. Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: Clinical data and molecular characterization
50. TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7
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