Search

Your search keyword '"Benjamin D. Solomon"' showing total 60 results

Search Constraints

Start Over You searched for: Author "Benjamin D. Solomon" Remove constraint Author: "Benjamin D. Solomon" Search Limiters Peer Reviewed Remove constraint Search Limiters: Peer Reviewed
60 results on '"Benjamin D. Solomon"'

Search Results

1. Prediction of HLA genotypes from single-cell transcriptome data

2. Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

Catalog

Books, media, physical & digital resources

3. A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severity

4. Neural Networks for Classification and Image Generation of Aging in Genetic Syndromes

5. Neural network classifiers for images of genetic conditions with cutaneous manifestations

6. New observations on maternal age effect on germline de novo mutations

9. Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

10. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in

11. Management of Secondary Genomic Findings

12. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

13. Strategic vision for improving human health at The Forefront of Genomics

15. Cancer genetics program: Follow‐up on clinical genetics and genomic medicine in Qatar

16. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia

17. Introduction

18. Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

19. MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

20. Putting the Pieces Together: Clinically Relevant Genetic and Genomic Resources for Hospitalists and Neonatologists

21. A Child’s HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus

22. Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

23. Analysis of renal anomalies in VACTERL association

24. Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms

25. Obstacles and opportunities for the future of genomic medicine

26. Early inspirations from times gone by

27. Analysis of cardiac anomalies in VACTERL association

28. Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism

29. Antigen-Specific Development of Mucosal Foxp3+RORγt+ T Cells from Regulatory T Cell Precursors

30. Tracking medical genetic literature through machine learning

31. Holoprosencephaly–polydactyly/pseudotrisomy 13

32. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

33. Evidence for SHH as a candidate gene for encephalocele

34. Applying Genomic Analysis to Newborn Screening

35. De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene

36. Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

37. Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association

38. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

39. Incidentalomas in Genomics and Radiology

40. A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

41. The clinical content of preconception care: genetics and genomics

42. Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care

43. Personalized genomic medicine: Lessons from the exome

44. VACTERL association and mitochondrial dysfunction

45. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings

46. Analysis of renal anomalies in VACTERL association

47. Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome

48. GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly

49. Using databases to address important but neglected clinical questions

50. The Benefits of Whole-Genome Sequencing Now and in the Future