Suchergebnisse - "Masunaga, Yohei"

PubPharm (29)

1

Surgery for long tubular intestinal duplication with massive hemorrhage : a case report and literature review

enthalten in: Surgical case reports | 2024

von Toyama, C. | Mizushima, H. | Kinjo, K. | +6

2

Surgery for long tubular intestinal duplication with massive hemorrhage: a case report and literature review

enthalten in: Surgical case reports | 2024

von Toyama, C. | Mizushima, H. | Kinjo, K. | +6

3

Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants : case reports with review of literature

enthalten in: Endocrine journal | 2024

von Masunaga, Y. | Ono, H. | Fujisawa, Y. | +3

4

Diabetes mellitus with severe insulin resistance in a young male patient with a heterozygous pathogenic IRS1 frameshift variant

enthalten in: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology | 2024

von Osawa, Y. | Ichiwata, N. | Kenmotsu, J. | +5

5

A novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism

enthalten in: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology | 2024

von Sano, S. | Iwamoto, S. | Matsushita, R. | +3

6

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency : Implications for hormonal diagnosis

enthalten in: The Journal of steroid biochemistry and molecular biology | 2023

von Fujisawa, Y. | Masunaga, Y. | Tanikawa, W. | +7

7

Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias

enthalten in: The Journal of clinical endocrinology and metabolism | 2023

von Masunaga, Y. | Fujisawa, Y. | Massart, F. | +11

8

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

enthalten in: Scientific reports | 2022

von Masunaga, Y. | Nishimura, G. | Takahashi, K. | +13

9

ACAN biallelic variants in a girl with severe idiopathic short stature

enthalten in: Journal of human genetics | 2022

von Masunaga, Y. | Ohkubo, Y. | Nishimura, G. | +5

10

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

enthalten in: Journal of human genetics | 2022

von Hiraide, T. | Masunaga, Y. | Honda, A. | +6