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1. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

4. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

5. Bi-allelic FRA10AC1 variants in a multisystem human syndrome

6. Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

8. Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort

10. SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series

11. Breast cancer in multiple endocrine neoplasia type 1 (MEN1)

12. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension

14. A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma

16. Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort

17. Clinical and radiological characterization of novel FIG4‐related combined system disease with neuropathy

18. Breast Cancer in MEN1: Coincidence or association?

24. Identification of novel pathogenic variants and phenotypic features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly defined inactivating PTH/PTHrP signalling disorders (iPPSD) classification system

25. Breast cancer in MEN1: coincidence or association?

26. SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

28. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

29. Management of primary hyperparathyroidism in pregnancy: a case series

30. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

31. Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders

37. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

40. Translating In Vivo Metabolomic Analysis of Succinate Dehydrogenase–Deficient Tumors Into Clinical Utility

41. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

42. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

43. Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

45. Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

46. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

49. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

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