315 results on '"Masurel-Paulet A"'
Search Results
2. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
3. Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
4. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
5. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
6. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
7. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
8. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
9. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
10. Written information to patients in clinical genetics: What’s the impact?
11. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
12. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
13. Severe X-linked chondrodysplasia punctata in nine new female fetuses
14. Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome
15. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
16. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
17. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis
18. Expanding the clinical phenotype of patients with a ZDHHC9 mutation
19. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
20. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
21. NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
22. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum
23. The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
24. The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
25. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
26. Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
27. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
28. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip–palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)
29. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
30. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
31. What can we learn from old microdeletion syndromes using array-CGH screening?
32. Homozygous SMN1 Exons 1–6 Deletion: Pitfalls in Genetic Counseling and General Recommendations for Spinal Muscular Atrophy Molecular Diagnosis
33. Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability
34. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome
35. GLI3 Is Rarely Implicated in OFD Syndromes with Midline Abnormalities
36. Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses
37. A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
38. The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
39. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome
40. Delineation of 15q13.3 microdeletions
41. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
42. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
43. Vertebral Defects As An Unusual Mode of Presentation of 22q11.2 Deletion
44. Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
45. Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene
46. Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH
47. Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and Myelodysplasia
48. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
49. Polymicrogyria in a Child With Inv Dup Del(9P) and 22Q11.2 Microduplication
50. Genomic Deletions of OFD1 Account for 23% of Oral-facial-digital Type 1 Syndrome After Negative DNA Sequencing
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