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

Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis

中枢性先天性甲状腺功能减退症的深入研究:一项多中心回顾性分析

German, Alina; Almashanu, Shlomo; de Vries, Liat; Gil Margolis, Merav; Halloun, Rana; Haim, Alon; Eyal, Ori; Levy-Khademi, Floris; Pivko-Levy, Dikla; Nir, Judith; Pinhas-Hamiel, Orit; Tenenbaum-Rakover, Yardena

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

与MCM8和MCM9基因双等位基因种系变异相关的临床综合征

Helderman, Noah C; Yang, Ting; Palles, Claire; Terlouw, Diantha; Mei, Hailiang; Vorderman, Ruben H P; Cats, Davy; Díaz-Gay, Marcos; Jongmans, Marjolijn C J; Ramdien, Ashwin; van de Beek, Irma; Eleveld, Thomas F; Green, Andrew; Hes, Frederik J; van den Heuvel-Eibrink, Marry M; Van Der Kelen, Annelore; Kliesch, Sabine; Kuiper, Roland P; Lakeman, Inge M M; Lashley, Lisa E E L O; Looijenga, Leendert H J; Oud, Manon S; Steingröver, Johanna; Tenenbaum-Rakover, Yardena; Tops, Carli M; Tüttelmann, Frank; de Voer, Richarda M; Westra, Dineke; Wyrwoll, Margot J; Golubicki, Mariano; Antelo, Marina; Bonjoch, Laia; Terradas, Mariona; Valle, Laura; Alexandrov, Ludmil B; Morreau, Hans; van Wezel, Tom; Castellví-Bel, Sergi; Goldberg, Yael; Nielsen, Maartje

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population

在德鲁兹人群中鉴定出导致沃尔夫拉姆综合征的WFS1基因致病性创始变异

Halabi, Inbal; Tenenbaum-Rakover, Yardena; Sagi-Dain, Lena; Koren, Ilana

The natural course of newborns with transient congenital hypothyroidism

新生儿暂时性先天性甲状腺功能减退症的自然病程

Almagor, Tal; Almashanu, Shlomo; Elias-Assad, Ghadir; Admoni, Osnat; Ludar, Hanna; London, Shira; Rath, Shoshana; German, Alina; Shwartz, Naama; Tenenbaum-Rakover, Yardena

Usefulness of thyroid function assessment in infants born to mothers with thyroid dysfunction during pregnancy

孕期甲状腺功能异常母亲所生婴儿甲状腺功能评估的意义

Ben-Zeev, Zohar Steinberg; Peniakov, Marina; Felszer, Clari; Weiner, Scott A; Lahad, Avishay; Almashanu, Shlomo; Tenenbaum Rakover, Yardena

Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy

病例报告:自身免疫性肠病引起的严重低钙血症发作

Halabi, Inbal; Barohom, Marie Noufi; Peleg, Sarit; Trougouboff, Phillippe; Elias-Assad, Ghadir; Agbaria, Rhania; Tenenbaum-Rakover, Yardena

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

原发性先天性甲状腺功能减退症患者听力障碍发生率高

Almagor, Tal; Rath, Shoshana; Nachtigal, Dan; Sharroni, Zohara; Elias-Assad, Ghadir; Hess, Ora; Havazelet, Gilad; Zehavi, Yoav; Spiegel, Ronen; Bercovich, Dani; Almashanu, Shlomo; Tenenbaum-Rakover, Yardena

The evolving role of whole-exome sequencing in the management of disorders of sex development

全外显子组测序在性发育障碍管理中的作用日益增强

Tenenbaum-Rakover, Yardena; Admoni, Osnat; Elias-Assad, Ghadir; London, Shira; Noufi-Barhoum, Marie; Ludar, Hanna; Almagor, Tal; Zehavi, Yoav; Sultan, Charles; Bertalan, Rita; Bashamboo, Anu; McElreavey, Kenneth

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

一名17岁男性因POU1F1基因突变导致未经治疗的垂体联合激素缺乏症,出现极度矮小和严重的神经系统损伤

Majdoub, Hussein; Amselem, Serge; Legendre, Marie; Rath, Shoshana; Bercovich, Dani; Tenenbaum-Rakover, Yardena

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder

由IER3IP1复合杂合突变引起的小头畸形、癫痫和新生儿糖尿病:对一种罕见疾病自然史的深入了解

Shalev, Stavit A; Tenenbaum-Rakover, Yardena; Horovitz, Yoseph; Paz, Veronica P; Ye, Honggang; Carmody, David; Highland, Heather M; Boerwinkle, Eric; Hanis, Craig L; Muzny, Donna M; Gibbs, Richard A; Bell, Graeme I; Philipson, Louis H; Greeley, Siri Atma W