1,065 results on '"Leal, Suzanne M."'
Search Results
2. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
3. DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
4. Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali
5. A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
6. Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
7. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
8. Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants
9. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting
10. A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
11. Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology
12. A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.
13. Centers for Mendelian Genomics: A decade of facilitating gene discovery
14. Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future
15. Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes
16. A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
17. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
18. Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria
19. Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
20. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
21. Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm
22. The role of CDHR3 in susceptibility to otitis media
23. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
24. Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings
25. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project
26. Frequency and Complexity of De Novo Structural Mutation in Autism
27. A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease
28. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
29. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
30. De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
31. A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data
32. MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
33. FUT2 Variants Confer Susceptibility to Familial Otitis Media
34. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
35. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
36. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly
37. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma
38. Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment
39. Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.
40. A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria
41. Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.
42. A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
43. Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations
44. The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
45. Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance
46. Discovery of common and rare genetic risk variants for colorectal cancer
47. Single-Nucleotide Polymorphism in the Human Mu opioid Receptor Gene Alters β -Endorphin Binding and Activity: Possible Implications for Opiate Addiction
48. Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment
49. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
50. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment
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