日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930-2021: A Nationwide Study

1930-2021年丹麦多发性内分泌肿瘤2A型中RET C611Y种系变异:一项全国性研究

Hansen, Anders Würgler; Vestergaard, Peter; Poulsen, Morten Møller; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Madsen, Mette; Næraa, Rune Weis; Hansen, Dorte; Main, Katharina; Pedersen, Henrik Baymler; Londero, Stefano Christian; Rolighed, Lars; Hahn, Christoffer Holst; Rask, Klara Bay; Maare, Christian; Nielsen, Heidi Hvid; Gaustadnes, Mette; Rossing, Maria; Hermann, Pernille; Mathiesen, Jes Sloth

Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Population-Based Retrospective Study

丹麦1930-2021年多发性内分泌肿瘤2A型合并原发性甲状旁腺功能亢进症:一项基于全国人口的回顾性研究

Holm, Magnus; Vestergaard, Peter; Poulsen, Morten Møller; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Bay, Mette; Rolighed, Lars; Londero, Stefano; Pedersen, Henrik Baymler; Hahn, Christoffer Holst; Rask, Klara Bay; Nielsen, Heidi Hvid; Gaustadnes, Mette; Rossing, Maria Caroline; Hermann, Anne Pernille; Godballe, Christian; Mathiesen, Jes Sloth

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

探讨便秘、1型神经纤维瘤病严重程度及NF1突变谱之间的关联

Ejerskov, Cecilie; Gaustadnes, Mette; Ostergaard, John R; Krogh, Klaus; Thorsen, Kasper; Borglum, Anders D; Haagerup, Annette

MON-058 Precocious Puberty and Hypothyroidism in a Pediatric Case

MON-058 儿童性早熟合并甲状腺功能减退症病例

Dinesen, Pia T; Dal, Jakob; Gabrovska, Plamena; Gaustadnes, Mette; Gravholt, Claus H; Stals, Karen; Denes, Judit; Asa, Sylvia L; Korbonits, Márta; Jørgensen, Jens O L; Durga Kagita, Navyamani Venkata; Umarji, Gunjan; Stezzi, Marc; Desai, Kanisha; Watari, Jessica; Kachhadia, Palak; Khan, Shaza; Aldasouqi, Saleh; Limon, Ahmad Abu; Gomez D' Aza, Danelly J; Kasap, Melih; Zahedi, Tooraj; Zhang, Fan; Sea, Jessica L; Head, Michael J; Chiu, Harvey Kenn

Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study

新提出的甲状腺髓样癌TNM分期系统的复制:一项全国性研究

Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter; Poulsen, Per Løgstrup; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Schytte, Sten; Londero, Stefano Christian; Pedersen, Henrik Baymler; Hahn, Christoffer Holst; Bentzen, Jens; Möller, Sören; Gaustadnes, Mette; Rossing, Maria; Nielsen, Finn Cilius; Brixen, Kim; Godballe, Christian

Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study

1901-2014年丹麦多发性内分泌肿瘤2A型的发病率和患病率:一项全国性研究

Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter; Stochholm, Kirstine; Poulsen, Per Løgstrup; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Schytte, Sten; Pedersen, Henrik Baymler; Hahn, Christoffer Holst; Bentzen, Jens; Möller, Sören; Gaustadnes, Mette; Rossing, Maria; Nielsen, Finn Cilius; Brixen, Kim; Frederiksen, Anja Lisbeth; Godballe, Christian

Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study

1960-2014年丹麦散发性和遗传性甲状腺髓样癌的发病率和患病率:一项全国性研究

Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter; Stochholm, Kirstine; Poulsen, Per Løgstrup; Rasmussen, Åse Krogh; Feldt-Rasmussen, Ulla; Schytte, Sten; Londero, Stefano Christian; Pedersen, Henrik Baymler; Hahn, Christoffer Holst; Djurhuus, Bjarki Ditlev; Bentzen, Jens; Möller, Sören; Gaustadnes, Mette; Rossing, Maria; Nielsen, Finn Cilius; Brixen, Kim; Frederiksen, Anja Lisbeth; Godballe, Christian

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

马凡综合征的患病率、发病率和诊断年龄

Groth, Kristian A; Hove, Hanne; Kyhl, Kasper; Folkestad, Lars; Gaustadnes, Mette; Vejlstrup, Niels; Stochholm, Kirstine; Østergaard, John R; Andersen, Niels H; Gravholt, Claus H

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

重新审视胱硫醚β-合成酶缺乏症引起的同型半胱氨酸尿症的自然史

Skovby, Flemming; Gaustadnes, Mette; Mudd, S Harvey

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

携带最常见同型半胱氨酸尿症突变 c.833T>C 的胱硫醚β-合成酶单倍型的多样性:基因转换的可能作用

Vyletal, Petr; Sokolová, Jitka; Cooper, David N; Kraus, Jan P; Krawczak, Michael; Pepe, Guglielmina; Rickards, Olga; Koch, Hans G; Linnebank, Michael; Kluijtmans, Leo A J; Blom, Henk J; Boers, Godfried H J; Gaustadnes, Mette; Skovby, Flemming; Wilcken, Bridget; Wilcken, David E L; Andria, Generoso; Sebastio, Gianfranco; Naughten, Eileen R; Yap, Sufin; Ohura, Toshihiro; Pronicka, Ewa; Laszlo, Aranka; Kozich, Viktor