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. Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2
20. Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis.
21. Genetic testing in the evaluation of individuals with clinical diagnosis of atypicalSturge–Webersyndrome
22. Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma
23. A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family
24. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
25. Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
26. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
27. MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
28. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge–Weber syndrome.
29. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations
30. Centers for Mendelian Genomics: A decade of facilitating gene discovery
31. The impact of GeneMatcher on international data sharing and collaboration
32. eP251: Vascular anomalies in patients with Maffucci syndrome
33. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
34. Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms
35. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
36. Additional file 1 of PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
37. Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
38. Additional file 2 of PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
39. MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
40. Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus
41. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
42. Typical achondroplasia secondary to a unique insertional variant ofFGFR3with in vitro demonstration of its effect on FGFR3 function
43. Mosaic trisomy 13: understanding origin using SNP array
44. An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy
45. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
46. Role of telomere shortening in anticipation of inflammatory bowel disease
47. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
48. Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
49. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
50. Familial Aggregation in Idiopathic Subglottic Stenosis
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