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

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

利用基因组测序扩大澳大利亚新生儿血斑筛查计划:我们想要它吗?我们准备好了吗?

White, Stephanie; Mossfield, Tamara; Fleming, Jane; Barlow-Stewart, Kristine; Ghedia, Sondhya; Dickson, Rebecca; Richards, Fiona; Bombard, Yvonne; Wiley, Veronica

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

神经遗传性胎儿运动不能和关节挛缩症:遗传学、扩展的基因型-表型和功能基因组学

Ravenscroft, Gina; Clayton, Joshua S; Faiz, Fathimath; Sivadorai, Padma; Milnes, Di; Cincotta, Rob; Moon, Phillip; Kamien, Ben; Edwards, Matthew; Delatycki, Martin; Lamont, Phillipa J; Chan, Sophelia Hs; Colley, Alison; Ma, Alan; Collins, Felicity; Hennington, Lucinda; Zhao, Teresa; McGillivray, George; Ghedia, Sondhya; Chao, Katherine; O'Donnell-Luria, Anne; Laing, Nigel G; Davis, Mark R

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

与 COL4A1/2 基因突变相关的神经系统表型:疾病谱的扩展

Zagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S; Vezyroglou, Katharina; Varadkar, Sophia M; Pepler, Alexander; Biskup, Saskia; Leão, Miguel; Gärtner, Jutta; Merkenschlager, Andreas; Jaksch, Michaela; Møller, Rikke S; Gardella, Elena; Kristiansen, Britta Schlott; Hansen, Lars Kjærsgaard; Vari, Maria Stella; Helbig, Katherine L; Desai, Sonal; Smith-Hicks, Constance L; Hino-Fukuyo, Naomi; Talvik, Tiina; Laugesaar, Rael; Ilves, Pilvi; Õunap, Katrin; Körber, Ingrid; Hartlieb, Till; Kudernatsch, Manfred; Winkler, Peter; Schimmel, Mareike; Hasse, Anette; Knuf, Markus; Heinemeyer, Jan; Makowski, Christine; Ghedia, Sondhya; Subramanian, Gopinath M; Striano, Pasquale; Thomas, Rhys H; Micallef, Caroline; Thom, Maria; Werring, David J; Kluger, Gerhard Josef; Cross, J Helen; Guerrini, Renzo; Balestrini, Simona; Sisodiya, Sanjay M

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

ZNF462单倍体不足与颅面畸形、胼胝体发育不全、上睑下垂和发育迟缓有关。

Weiss, Karin; Wigby, Kristen; Fannemel, Madeleine; Henderson, Lindsay B; Beck, Natalie; Ghali, Neeti; Study, D D D; Anderlid, Britt-Marie; Lundin, Johanna; Hamosh, Ada; Jones, Marilyn C; Ghedia, Sondhya; Muenke, Maximilian; Kruszka, Paul

Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations

疾病相关突变破坏脑海绵状血管畸形2 (CCM2) 与 Krev 相互作用捕获蛋白1 (KRIT1) 相互作用的结构基础

Oriana S Fisher ,Weizhi Liu ,Rong Zhang ,Amy L Stiegler ,Sondhya Ghedia ,James L Weber ,Titus J Boggon

Nutritional status of adolescents in Bangladesh: Comparison of severe thinness status of a low-income family's adolescents between urban and rural Bangladesh

孟加拉国青少年营养状况:低收入家庭青少年城乡严重消瘦状况比较

Akhter, Neyamul; Sondhya, Farida Yasmin