Works matching IS 10597794 AND DT 2024 AND VI 2024

Results: 34
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    Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8813121
    By:
    • Pajusalu, Sander;
    • Vals, Mari-Anne;
    • Serrano, Mercedes;
    • Witters, Peter;
    • Cechova, Anna;
    • Honzik, Tomáš;
    • Edmondson, Andrew C.;
    • Ficicioglu, Can;
    • Barone, Rita;
    • De Lonlay, Pascale;
    • Bérat, Claire-Marine;
    • Vuillaumier-Barrot, Sandrine;
    • Lam, Christina;
    • Patterson, Marc C.;
    • Janssen, Mirian C. H.;
    • Martins, Esmeralda;
    • Quelhas, Dulce;
    • Sykut-Cegielska, Jolanta;
    • Mousa, Jehan;
    • Urreizti, Roser
    Publication type:
    Article
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    Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8807171
    By:
    • Perrier, Stefanie;
    • Macintosh, Julia;
    • Misiaszek, Agata D.;
    • Lambert, Gabrielle;
    • Guerrero, Kether;
    • Tran, Luan T.;
    • Müller, Christoph W.;
    • Pastinen, Tomi;
    • Maegawa, Gustavo H. B.;
    • Thiffault, Isabelle;
    • Bernard, Geneviève;
    • Oetting, William
    Publication type:
    Article
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    Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3046495
    By:
    • Köksal, Zehra;
    • Børsting, Claus;
    • Bailliet, Graciela;
    • Burgos, Germán;
    • Carvalho, Elizeu;
    • Casas-Vargas, Andrea;
    • Castillo, Adriana;
    • Gomes, Marilia Brito;
    • Martínez, Beatriz;
    • Ossa, Humberto;
    • Parolin, María Laura;
    • Quiroz, Alfredo;
    • Toscanini, Ulises;
    • Usaquén, William;
    • Velázquez, Irina F.;
    • Vullo, Carlos;
    • Gusmão, Leonor;
    • Pereira, Vania;
    • Olszewska, Marta
    Publication type:
    Article
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    Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/3043736
    By:
    • DeMille, Desiree;
    • McDonald, Jamie;
    • Bernabeu, Carmelo;
    • Racher, Hilary;
    • Olivieri, Carla;
    • Cantarini, Claudia;
    • Sbalchiero, Anna;
    • Thompson, Bryony A.;
    • Jovine, Luca;
    • Shovlin, Claire L.;
    • Dupuis-Girod, Sophie;
    • Lesca, Gaetan;
    • Tusseau, Maud;
    • Ganguly, Arupa;
    • Kasthuri, Raj S.;
    • Jessen, Jaime;
    • Massink, Maarten P. G.;
    • Shoji Ichikawa;
    • Bayrak-Toydemir, Pinar
    Publication type:
    Article
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    The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/1844190
    By:
    • Guo, Qingbao;
    • Hao, Fangbin;
    • Wang, Qian-Nan;
    • Li, Jingjie;
    • Liu, Shitong;
    • Zou, Zhengxing;
    • Liu, Simeng;
    • Wang, Xiaopeng;
    • Yu, Dan;
    • Gao, Gan;
    • Zhang, Qian;
    • Pei, Songtao;
    • Feng, Jie;
    • Yang, Rimiao;
    • Wang, Minjie;
    • Fu, Heguan;
    • Han, Cong;
    • Bao, Xiangyang;
    • Duan, Lian
    Publication type:
    Article
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    Genome Sequencing of Idiopathic Speech Delay.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9692863
    By:
    • Eising, Else;
    • Vino, Arianna;
    • Mabie, Heather L.;
    • Campbell, Thomas F.;
    • Shriberg, Lawrence D.;
    • Fisher, Simon E.
    Publication type:
    Article
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    The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8849348
    By:
    • Borovikov, Artem;
    • Galeeva, Nailya;
    • Marakhonov, Andrey;
    • Murtazina, Aysylu;
    • Kadnikova, Varvara;
    • Davydenko, Kseniya;
    • Orlova, Anna;
    • Sparber, Peter;
    • Markova, Tatiana;
    • Orlova, Maria;
    • Osipova, Darya;
    • Nagornova, Tatyana;
    • Semenova, Natalia;
    • Levchenko, Olga;
    • Filatova, Alexandra;
    • Sharova, Margarita;
    • Vasiluev, Peter;
    • Kanivets, Ilya;
    • Pyankov, Denis;
    • Sharkov, Artem
    Publication type:
    Article
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