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  1. 81
    Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications

    Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

    Published 2025-01-01
    “…Molecular Genetics & Genomic Medicine…”
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  2. 82
    A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy

    A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

    Published 2025-01-01
    “…Molecular Genetics & Genomic Medicine…”
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  3. 83
    Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection

    Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

    Published 2025-01-01
    “…Molecular Genetics & Genomic Medicine…”
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  4. 84
    A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review

    A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

    Published 2025-01-01
    “…Molecular Genetics & Genomic Medicine…”
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  5. 85
    Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant

    Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

    Published 2025-01-01
    “…Molecular Genetics & Genomic Medicine…”
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  6. 86
    Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study

    Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study by Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek

    Published 2025-03-01
    “…Molecular Genetics and Metabolism Reports…”
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  7. 87
    Inhibition of Glutamate‐to‐Glutathione Flux Promotes Tumor Antigen Presentation in Colorectal Cancer Cells

    Inhibition of Glutamate‐to‐Glutathione Flux Promotes Tumor Antigen Presentation in Colorectal Cancer Cells by Tao Yu, Kevin Van der Jeught, Haiqi Zhu, Zhuolong Zhou, Samantha Sharma, Sheng Liu, Haniyeh Eyvani, Ka Man So, Naresh Singh, Jia Wang, George E. Sandusky, Yunlong Liu, Mateusz Opyrchal, Sha Cao, Jun Wan, Chi Zhang, Xinna Zhang

    Published 2025-01-01
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  8. 88
    A Novel P53-Related Activity in a Colon Adenocarcinoma Cell Line With Mutant P53

    A Novel P53-Related Activity in a Colon Adenocarcinoma Cell Line With Mutant P53 by Andrei L. Gartel, Eugene Goufman, Charlotte Hurth, Angela L. Tyner

    Published 2001-01-01
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  9. 89
    Role of Transforming Growth Factor 1 in Lymphocyte Development and Death

    Role of Transforming Growth Factor 1 in Lymphocyte Development and Death by Ramireddy Bommireddy, Ilona Ormsby, Moying Yin, Thomas C. Doetschman

    Published 2001-01-01
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  10. 90
    Allogeneic CD33-directed CAR-NKT cells for the treatment of bone marrow-resident myeloid malignancies

    Allogeneic CD33-directed CAR-NKT cells for the treatment of bone marrow-resident myeloid malignancies by Yan-Ruide Li, Ying Fang, Siyue Niu, Yichen Zhu, Yuning Chen, Zibai Lyu, Enbo Zhu, Yanxin Tian, Jie Huang, Valerie Rezek, Scott Kitchen, Tzung Hsiai, Jin J. Zhou, Pin Wang, Wanxing Chai-Ho, Sunmin Park, Christopher S. Seet, Caspian Oliai, Lili Yang

    Published 2025-02-01
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  11. 91
    Longitudinal omics data and preclinical treatment suggest the proteasome inhibitor carfilzomib as therapy for ibrutinib-resistant CLL

    Longitudinal omics data and preclinical treatment suggest the proteasome inhibitor carfilzomib as therapy for ibrutinib-resistant CLL by Lavinia Arseni, Gianluca Sigismondo, Haniyeh Yazdanparast, Johanne U. Hermansen, Norman Mack, Sibylle Ohl, Verena Kalter, Murat Iskar, Mathias Kalxdorf, Dennis Friedel, Mandy Rettel, Yashna Paul, Ingo Ringshausen, Eric Eldering, Julie Dubois, Arnon P. Kater, Marc Zapatka, Philipp M. Roessner, Eugen Tausch, Stephan Stilgenbauer, Sascha Dietrich, Mikhail M. Savitski, Sigrid S. Skånland, Jeroen Krijgsveld, Peter Lichter, Martina Seiffert

    Published 2025-01-01
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  12. 92
    Alginate Beads Encapsulated Auxin-Producing PGPR as a Biofertilizer Promotes Triticum aestivum Growth

    Alginate Beads Encapsulated Auxin-Producing PGPR as a Biofertilizer Promotes Triticum aestivum Growth by Nimra Mushtaq, Atia Iqbal, Shumaila Batool, Sara Janiad, Mehboob Ahmed, Fahad Al-Asmari, Muhammad Abdul Rahim, Mohamed Fawzy Ramadan, Eliasse Zongo

    Published 2025-01-01
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  13. 93
    A novel lncRNA AC112721.1 promotes the progression of triple-negative breast cancer by directly binding to THBS1 and regulating miR-491-5p/C2CD2L axis

    A novel lncRNA AC112721.1 promotes the progression of triple-negative breast cancer by directly binding to THBS1 and regulating miR-491-5p/C2CD2L axis by Ping Ma, Shiyao Kang, Huimin Li, Ming Li, Yuan Zhao, Hongjun Yuan, Jianyu Pang, Wenru Tang, Miaomiao Sheng

    Published 2024-12-01
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  14. 94
    A truncated variant of the ribosome-associated trigger factor specifically contributes to plant chloroplast ribosome biogenesis

    A truncated variant of the ribosome-associated trigger factor specifically contributes to plant chloroplast ribosome biogenesis by Fabian Ries, Jasmin Gorlt, Sabrina Kaiser, Vanessa Scherer, Charlotte Seydel, Sandra Nguyen, Andreas Klingl, Julia Legen, Christian Schmitz-Linneweber, Hinrik Plaggenborg, Jediael Z. Y. Ng, Dennis Wiens, Georg K. A. Hochberg, Markus Räschle, Torsten Möhlmann, David Scheuring, Felix Willmund

    Published 2025-01-01
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  15. 95
    Genetic Variation of Lentil Landraces Across Different Altitudes in Azerbaijan

    Genetic Variation of Lentil Landraces Across Different Altitudes in Azerbaijan by Babayeva Sevda, Shikhaliyeva Kamila, Qurbanova Qamar, Hajiyeva Sabina, Izzatullayeva Vusala, Rustamov Khanbala, Abbasov Mehraj

    Published 2025-01-01
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  16. 96
    Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”

    Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review” by Jamie H. Choi, Rachel Li, Rachel Gannaway, Tahnee N. Causey, Anna Harrison, Natario L. Couser

    Published 2020-01-01
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  17. 97
    STAT5B::RARα-positive acute promyelocytic leukemia: Role of next generation sequencing in detection of a rare malignancy

    STAT5B::RARα-positive acute promyelocytic leukemia: Role of next generation sequencing in detection of a rare malignancy by Indranil Dey, Sushant Vinarkar, Mayur Parihar, Deepak Kumar Mishra

    Published 2025-01-01
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  18. 98
    A gene expression atlas of Nicotiana tabacum across various tissues at transcript resolution

    A gene expression atlas of Nicotiana tabacum across various tissues at transcript resolution by Shizhou Yu, Jufen Wan, Jufen Wan, Tenghang Xu, Tenghang Xu, Jie Zhang, Linggai Cao, Jie Liu, Hongfeng Liu, Xueliang Ren, Zhixiao Yang

    Published 2025-02-01
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  19. 99
    Intergenerational transport of double-stranded RNA in C. elegans can limit heritable epigenetic changes

    Intergenerational transport of double-stranded RNA in C. elegans can limit heritable epigenetic changes by Nathan M Shugarts Devanapally, Aishwarya Sathya, Andrew L Yi, Winnie M Chan, Julia A Marre, Antony M Jose

    Published 2025-02-01
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  20. 100
    Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

    Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

    Published 2015-01-01
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