Suchergebnisse - "EC 1.14.14.16"

PubPharm (1.935)

1

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics : an ENDO-ERN Reference Center

enthalten in: Orphanet journal of rare diseases | 2024

von Neocleous, V. | Fanis, P. | Toumba, M. | +2

2

Giant Bilateral Adrenal Myelolipomas in a Non-Compliant Patient with Congenital Adrenal Hyperplasia

enthalten in: The American journal of case reports | 2024

von Brutvan, T. | Psenicka, O. | Krizova, J. | +2

3

enthalten in: Ugeskrift for laeger | 2024

von Thomsen, H.

4

Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency

enthalten in: Journal of endocrinological investigation | 2024

von Zhang, X. | Gao, Y. | Lu, L. | +9

5

The intrafollicular concentrations of biologically active cortisol in women rise abruptly shortly before ovulation and follicular rupture

enthalten in: Human reproduction (Oxford, England) | 2024

von Johannsen, M. | Poulsen, L. | Mamsen, L. | +6

6

Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH)

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

von Koren, I. | Weintrob, N. | Kebesch, R. | +4

7

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency

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

von Adachi, E. | Nakagawa, R. | Tsuji-Hosokawa, A. | +14

8

Predictors of Cardiovascular Morbidities in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

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

von Charoensri, S. | Auchus, R.

9

Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia

enthalten in: Clinica chimica acta; international journal of clinical chemistry | 2024

von Zhang, R. | Cui, D. | Song, C. | +7

10

Navigating the Complex Landscape of CYP21A2 Variants

enthalten in: Indian journal of pediatrics | 2024

von Dubey, S. | Gupta, N.

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