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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. 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.

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

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

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

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

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

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

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

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