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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

8. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

11. Anxiety and dysautonomia symptoms in patients with a NaV1.7 mutation and the potential benefits of low-dose short-acting guanfacine

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.

17. Mapping Genetic Susceptibility to Stenosis in the Proximal Airway

19. Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis.

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

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

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

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

40. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

44. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

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

50. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

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