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

Eph-ephrin signaling and its potential role in female reproductive tract development

Eph-ephrin信号通路及其在雌性生殖道发育中的潜在作用

Prasun, Pankaj

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

Dystonic Cerebral Palsy-Like Presentation Caused by a Novel TCF20 Variant

由新型TCF20变异引起的肌张力障碍型脑瘫样表现

Prasun, Pankaj; Vermeire, Kylie; Ferimer, Stephanie

Making a case for mitochondria in hypertrophic cardiomyopathy

论证线粒体在肥厚型心肌病中的作用

Prasun, Pankaj; Kohli, Utkarsh

EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable

EEF2相关神经发育障碍在临床上可识别

Prasun, Pankaj; Patra, Kamakhya

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

KCNJ16基因双等位基因功能缺失变异可导致低钾性代谢性酸中毒

Webb, Bryn D; Hotchkiss, Hilary; Prasun, Pankaj; Gelb, Bruce D; Satlin, Lisa

Role of mitochondria in pathogenesis of type 2 diabetes mellitus

线粒体在2型糖尿病发病机制中的作用

Prasun, Pankaj

Mitochondrial translation defects and human disease

线粒体翻译缺陷与人类疾病

Webb, Bryn D; Diaz, George A; Prasun, Pankaj

Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement"

EARS2 的临床表现谱系广泛,不仅限于典型的“丘脑和脑干受累的白质脑病”。

Prasun, Pankaj; Mintz, Cassie; Cork, Emalyn; Naidich, Thomas P; Webb, Bryn D

Skin lesions in a patient with Cobalamin C disease in poor metabolic control

一名患有钴胺素C缺乏症且代谢控制不佳的患者出现皮肤病变

Prasun, Pankaj; Chapel-Crespo, Cristel; Williamson, Amy; Chu, Paul; Oishi, Kimihiko; Diaz, George