188 results on '"Wohler, Elizabeth"'
Search Results
2. Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine
3. Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function
4. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population
5. Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome
6. Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex
7. Expansion of the phenotypic and mutational spectrum of Carpenter syndrome
8. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
9. A novel homozygous KY variant causing a complex neurological disorder
10. De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex
11. Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine
12. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
13. De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
14. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
15. Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine.
16. P224: Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples with somatic IDH1 mosaicism
17. Mapping Genetic Susceptibility to Stenosis in the Proximal Airway
18. Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants
19. Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis.
20. Genetic testing in the evaluation of individuals with clinical diagnosis of atypicalSturge–Webersyndrome
21. Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma
22. A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family
23. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
24. Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
25. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
26. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome.
27. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
28. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
29. Centers for Mendelian Genomics: A decade of facilitating gene discovery
30. The impact of GeneMatcher on international data sharing and collaboration
31. eP251: Vascular anomalies in patients with Maffucci syndrome
32. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
33. Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms
34. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
35. Additional file 1 of PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
36. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
37. Additional file 2 of PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
38. MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
39. Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus
40. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
41. Typical achondroplasia secondary to a unique insertional variant ofFGFR3with in vitro demonstration of its effect on FGFR3 function
42. Mosaic trisomy 13: understanding origin using SNP array
43. An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy
44. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
45. Role of telomere shortening in anticipation of inflammatory bowel disease
46. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
47. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
48. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
49. Familial Aggregation in Idiopathic Subglottic Stenosis
50. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations
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