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Your search keyword '"Kobayashi, Masahisa"' showing total 186 results

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186 results on '"Kobayashi, Masahisa"'

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1. Rescue from sudden ventricular tachycardia and fibrillation using wearable cardioverter-defibrillator in male late-onset Fabry disease patient.

8. Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions

15. Clinical outcomes in pregnant women with coronavirus disease 2019 in a perinatal medical centre in Japan: a retrospective study of the first 1 year of the pandemic

21. Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy

23. Update of the genotype and phenotype ofKMT2DandKDM6Aby genetic screening of 100 patients with clinically suspected Kabuki syndrome

29. Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally

30. AB017. Gene panel study for target metabolic diseases of newborn screening in Japan

36. Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST)

37. Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy

42. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

43. Myeloschisis Repair in a Premature Neonate with a Birth Weight of 599 g.

46. Absorption Spectra of Co-ordination Compounds. III. Special Bands of Chromium Complexes

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