Genetics in Medicine Open最新文献_第3页

P062: Presentation and diagnosis of adolescent-onset HMBS-related leukoencephalopathy P062：青少年发病的hbs相关脑白质病的表现和诊断

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102906

Katherine Szigety , Brittany Hoyle , Nicole Engelhardt , Mariko Bennett , Amy Waldman , Kim Ng

引用次数: 0

P025: Newborn screening predicts phenotype conversion and developmental outcome in hyperphenylalaninemia P025：新生儿筛查预测高苯丙氨酸血症的表型转化和发育结局

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102869

Aaron Williams , Kristian Divin , Lindsay Burrage , Fernando Scaglia , William Craigen , Vernon Sutton , Claudia Soler-Alfonso , Kevin Glinton , Ronit Marom

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P068: TMEM70 deficiency: Neurodevelopment, natural history, and emerging symptoms from neonate to childhood TMEM70缺乏：从新生儿到儿童的神经发育、自然史和新出现的症状

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102912

Tomas Vanagunas , Hailey Dennis , Amy Talboy , Hong Li , Rossana Sanchez

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P072: Use of tadalafil in MEGDEL syndrome P072：他达拉非在MEGDEL综合征中的应用

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102916

Daniel Schecter , Graeme Preston , Tamas Kozicz , Eva Morava-Kosicz

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29: Unraveling a complex genetic puzzle: Co-occurrence of Turner and Kabuki features, developmental delay, and autism spectrum disorder 29：解开一个复杂的遗传谜题：特纳和歌舞伎特征的共同出现，发育迟缓和自闭症谱系障碍

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101946

Meng-Chang Hsiao , Maureen Mulhern , Tristan Sands , Naomi Yachelevich , Jun Liao

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22: A case of partial trisomy 13 not detected on prenatal cfDNA screen 产前cfDNA筛查未检出13部分三体1例

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101939

Laura Bryant, Mari Mori, Bimal P. Chaudhari, Michael Zinmeister, Nathan Johnson, Elizabeth Hamelberg, Kimberly Wetherell, Don Roman, Jeffrey Wobser, Joon Kim, Matthew Meleski, Veronica Reher, Shalini C. Reshmi, Jason P. Garee, Jesse Hunter, Catherine Cottrell, Marco Leung, Taylor Porter, Theodora Matthews, Yassmine Akkari

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P022: Withdrawn P022:撤销

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102866

引用次数: 0

CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA 利用来自超低输入DNA的长读基因组测序进行CFTR单倍型分相

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.101962

Neeru Gandotra , Antariksh Tyagi , Irina Tikhonova , Caroline Storer , Curt Scharfe

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引用次数: 0

P048: Three year safety experience in children treated with govorestat for classic galactosemia P048：用govorestat治疗经典半乳糖血症儿童3年的安全性经验

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102892

Evan Bailey , Riccardo Perfetti , Shoshana Shendelman

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P050: Integrating metabolic, genetic, and demographic data for enhanced newborn screening P050：整合代谢、遗传和人口统计数据，加强新生儿筛查

Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102894

Curt Scharfe , Yuhan Xie , Gang Peng , Laura Forero , Gregory Enns , Hongyu Zhao , Tina Cowan

引用次数: 0