Suchergebnisse - "Hishinuma, Akira"

PubPharm (85)

1

Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects

enthalten in: The Journal of clinical endocrinology and metabolism | 2024

von Tanase-Nakao, K. | Iwahashi-Odano, M. | Sugisawa, C. | +25

2

Adult Thyroid Outcomes of Congenital Hypothyroidism

enthalten in: Thyroid : official journal of the American Thyroid Association | 2023

von Sugisawa, C. | Narumi, S. | Tanase-Nakao, K. | +13

3

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder : Correlation between goiter size and the free T3 to free T4 ratio

enthalten in: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology | 2022

von Matsuyama, M. | Sawada, H. | Inoue, S. | +4

4

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

enthalten in: Clinical case reports | 2020

von Kishi, H. | Jojima, T. | Kogai, T. | +13

5

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia : a case report

enthalten in: European journal of endocrinology | 2020

von Jojima, T. | Kogai, T. | Iijima, T. | +13

6

A CASE OF FAMILIAL NONAUTOIMMUNE HYPERTHYROIDISM DURING PREGNANCY

enthalten in: AACE clinical case reports | 2020

von Okazaki, Y. | Arata, N. | Umehara, N. | +7

7

A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre

enthalten in: Hormone research in paediatrics | 2020

von Nagasaki, K. | Shibata, N. | Nyuzuki, H. | +5

8

A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

enthalten in: Clinical Case Reports | 2020

von Kishi, H. | Jojima, T. | Kogai, T. | +13

9

Painless destructive thyroiditis in a patient with resistance to thyroid hormone: a case report

enthalten in: Thyroid research | 2019

von Nagamine, T. | Noh, J. | Emoto, N. | +4

10

Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement

enthalten in: Internal medicine (Tokyo, Japan) | 2019

von Mizokami, T. | Fukata, S. | Kogai, T. | +5

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