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651-660 trong số 897 kết quả
Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant
Tác giả: Mohammad Reza Mirinezhad, Farzaneh Mirzaei, Arash Salmaninejad, Reza Jafarzadeh Esfehani, Mohammad Reza Seyedtaghia, Sheyda Farahmand, Mehran Beiraghi Toosi, Somayyeh Hashemian, M E Suzzane Lewis
Xuất bản: United States: Molecular genetics & genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  305.5122
 
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre-Lingual Hearing Los...
Tác giả: Mathuravalli Krishnamoorthy, Chandru Jayasankaran, Sorna Lakshmi, Chodisetty Sarvani, Jeffrey Justin Margret, Subathra Mahalingam, Pavithra Amritkumar, Paridhy Vanniya Subramanyam, Sarrath Rathnaraajan S, C R Srikumari Srisailapathy
Xuất bản: England: Annals of human genetics , 2025
Bộ sưu tập: NCBI
ddc:  346.038
 
Genome-Wide Scan of Fifth Finger Clinodactyly
Tác giả: Myoung Keun Lee, Noah Herrick, Mary L Marazita, John R Shaffer, Seth M Weinberg
Xuất bản: United States: Molecular genetics & genomic medicine , 2025
Bộ sưu tập: NCBI
ddc:  398.26
 
Efficacy of Transitioning from Alglucosidase Alfa to Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Single-Cen...
Tác giả: Yin-Hsuan Chien, Hui-An Chen, Rai-Hseng Hsu, Chien-Hua Yeh, Ching-Ya Fang, Ni-Chung Lee, Wuh-Liang Hwu, Yin-Hsiu Chien
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  636.0885
 
Feasibility of Using Patient Navigation to Improve Identification of Hereditary Cancer Syndromes in Newly Diagnosed Colo...
Tác giả: Emma Sears, Jacky Dahlquist, Sarah Stayman, Cynthia Ko, Eric Q Konnick, Allison Cole, Ying Zhang, Marlana Kohn, Vida Henderson, Sarah Knerr
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  306.4846
 
Diamonds in the rif: Alignment-free comparative genomics analysis reveals strain-transcendent Plasmodium falciparum anti...
Tác giả: Jonathan G Lawton, Albert E Zhou, Emily M Stucke, Shannon Takala-Harrison, Joana C Silva, Mark A Travassos
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  070.48346
 
Genotoxic risks in patients with COVID-19
Tác giả: Nurşen Başaran, Olga Szewczyk-Roszczenko, Piotr Roszczenko, Yegor Vassetzky, Nikolajs Sjakste
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  599.6332
 
Comparative phylogenetic and sequence identity analysis of internal transcribed spacer 2 and cytochrome C oxidase subuni...
Tác giả: Irina Diekmann, Jürgen Krücken, Tetiana A Kuzmina, Christina M Bredtmann, Mariana Louro, Vitaliy A Kharchenko, Thomas Tzelos, Jacqueline B Matthews, Luís M Madeira de Carvalho, Georg von Samson-Himmelstjerna
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  025.523
 
Duplex PCR-Nanopore sequencing assay for Cryptosporidium species and subtype determination
Tác giả: Gustav Killander, Georgina Isak, Anna-Malin Linde, Abdolreza Advani, Caroline Rönnberg, Ioana Bujila
Xuất bản: Netherlands: Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases , 2025
Bộ sưu tập: NCBI
ddc:  242.5
 
ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time
Tác giả: Kezang C Tshering, Marina T DiStefano, Amal Aburyyan, John Alexander, Victoria Albano, Donglin Bai, Kevin Ta Booth, Paula I Buonfiglio, Cherine Charfeddine, Viviana Dalamón, Ignacio Del Castillo, Miguel Angel Moreno-Pelayo, Andrea M Oza, Hatice Duzkale, Ben Dorshorst, Rabia Faridi, Margaret Kenna, Morag A Lewis, Minjie Luo, Yu Lu, Rahma Mkaouar, Tatsuo Matsunaga, Kiyomitsu Nara, Pamela Ajuyah, Arti Pandya, Shelby Redfield, Isabelle Roux, Lisa A Schimmenti, Isabelle Schrauwen, Sherin Shaaban, Jun Shen, Barbara Vona, Richard J Smith, Heidi L Rehm, Ryan Webb, Hela Azaiez, Ahmad N Abou Tayoun, Sami S Amr, Enyonam Edoh, Ellie Broeren, Julie Ratliff, Vanessa Gitau, Kelley Paris
Xuất bản: United States: Genetics in medicine : official journal of the American College of Medical Genetics , 2025
Bộ sưu tập: NCBI
ddc:  611.0187
 

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