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

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway

挪威成年人巴德-比德尔综合征的临床和遗传学特征

Rustad, Cecilie Fremstad; Bragadottir, Ragnheidur; Tveten, Kristian; Nordgarden, Hilde; Miller, Jeanette Ullmann; Åsten, Pamela Marika; Vasconcelos, Gisela; Kulseth, Mari Ann; Holla, Øystein Lunde; Olsen, Hanne Gro; von der Lippe, Charlotte; Sigurdardottir, Solrun

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

具有米勒综合征重叠特征的轻度骨骼表型和两种新型人类二氢乳清酸脱氢酶变体的功能特征

Inger-Lise Mero, Juan Manuel Orozco Rodriguez, Kathrine Bjørgo, Renee Alexandra Hankin, Ewa Krupinska, Mari Ann Kulseth, Marvin Anthony Rossow, Wolfgang Knecht

Physical health and neurodevelopmental outcome in 7-year-old children whose mothers were at risk of gestational diabetes mellitus: a follow-up of a randomized controlled trial

母亲患有妊娠期糖尿病风险的7岁儿童的身体健康和神经发育结果:一项随机对照试验的后续研究

Kolseth, Åshild Jensen; Kulseth, Signe; Stafne, Signe Nilssen; Mørkved, Siv; Salvesen, Kjell Åsmund; Evensen, Kari Anne I

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

种系纯合错义 DEPDC5 变异可导致严重难治性早发性癫痫、大头畸形和双侧多小脑回畸形

Athina Ververi, Sara Zagaglia, Lara Menzies, Julia Baptista, Richard Caswell, Stephanie Baulac, Sian Ellard, Sally Lynch; Genomics England Research Consortium; Thomas S Jacques, Maninder Singh Chawla, Martin Heier, Mari Ann Kulseth, Inger-Lise Mero, Anne Katrine Våtevik, Ichraf Kraoua, Hanene Ben Rh

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT

挪威一项全国性GATA2缺陷研究——大多数患者已接受异基因造血干细胞移植

Jørgensen, Silje F; Buechner, Jochen; Myhre, Anders E; Galteland, Eivind; Spetalen, Signe; Kulseth, Mari Ann; Sorte, Hanne S; Holla, Øystein L; Lundman, Emma; Alme, Charlotte; Heier, Ingvild; Flægstad, Trond; Fløisand, Yngvar; Benneche, Andreas; Fevang, Børre; Aukrust, Pål; Stray-Pedersen, Asbjørg; Gedde-Dahl, Tobias; Nordøy, Ingvild

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

临床标准和高通量测序在诊断综合征性颅缝早闭患儿中的益处

Tønne, Elin; Due-Tønnessen, Bernt Johan; Mero, Inger-Lise; Wiig, Ulrikke Straume; Kulseth, Mari Ann; Vigeland, Magnus Dehli; Sheng, Ying; von der Lippe, Charlotte; Tveten, Kristian; Meling, Torstein Ragnar; Helseth, Eirik; Heimdal, Ketil Riddervold

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

COX16基因的一种新变异会导致细胞色素c氧化酶缺乏症、严重的致命性新生儿乳酸性酸中毒、脑病、心肌病和肝功能障碍。

Wintjes, Liesbeth T M; Kava, Maina; van den Brandt, Frans A; van den Brand, Mariël A M; Lapina, Oksana; Bliksrud, Yngve T; Kulseth, Mari A; Amundsen, Silja S; Selberg, Terje R; Ybema-Antoine, Marion; Tutakhel, Omar A Z; Greed, Lawrence; Thorburn, David R; Tangeraas, Trine; Balasubramaniam, Shanti; Rodenburg, Richard J T

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

一名19岁男性患者临床诊断为拉森综合征、斯蒂克勒综合征和洛伊斯-迪茨综合征:病例报告

Riise, N; Lindberg, B R; Kulseth, M A; Fredwall, S O; Lundby, R; Estensen, M-E; Drolsum, L; Merckoll, E; Krohg-Sørensen, K; Paus, B

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

原发性免疫缺陷病:基因组学方法揭示异质性孟德尔遗传病

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Trujillo Vargas, Claudia M; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gözde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

一项针对挪威遗传性血管性水肿伴C1抑制剂缺乏症患者的全国性研究,在SERPING1基因中发现了六个新的突变。

Johnsrud, Irene; Kulseth, Mari Ann; Rødningen, Olaug Kristin; Landrø, Linn; Helsing, Per; Waage Nielsen, Erik; Heimdal, Ketil