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

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Carbonic anhydrase VA deficiency due to a novel CA5A variant

由新型 CA5A 变体引起的碳酸酐酶 VA 缺乏症

Keehan, Laura; Null, Elizabeth; Chilakamarri, Lekha; Carter, Christopher; Lee, Chung; Enns, Gregory M; Matalon, Dena R

RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

由同一位置的双等位基因单核苷酸变异引起的RAPSN相关先天性肌无力综合征

Keehan, Laura; Carter, Jennefer N; Kravets, Elijah; Wheeler, Matthew T; Bernstein, Jonathan A; Maselli, Ricardo A; Sampson, Jacinda B; Bachir, Suha

Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder

唐氏综合征退行性疾病患者的诊断异常、疾病严重程度和免疫治疗反应

Santoro, Jonathan D; Jafarpour, Saba; Keehan, Laura; Khoshnood, Mellad M; Kazerooni, Lilia; Boyd, Natalie K; Vogel, Benjamin N; Nguyen, Lina; Manning, Melanie; Nagesh, Deepti; Spinazzi, Noemi A; Besterman, Aaron D; Quinn, Eileen A; Rafii, Michael S

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

大脑中主要 CDKL5 转录本特有的晚期截断突变个体表现出广泛的表型严重程度。

Keehan, Laura; Haviland, Isabel; Gofin, Yoel; Swanson, Lindsay C; El Achkar, Christelle Moufawad; Schreiber, John; VanNoy, Grace E; O'Heir, Emily; O'Donnell-Luria, Anne; Lewis, Richard Alan; Magoulas, Pilar; Tran, Alyssa; Azamian, Mahshid S; Chao, Hsiao-Tuan; Pham, Lisa; Samaco, Rodney C; Elsea, Sarah; Thorpe, Erin; Kesari, Akanchha; Perry, Denise; Lee, Brendan; Lalani, Seema R; Rosenfeld, Jill A; Olson, Heather E; Burrage, Lindsay C