Works matching IS 10597794 AND DT 2025 AND VI 2025

Results: 49
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    Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/8942542
    By:
    • Hany, Ummey;
    • Watson, Christopher M.;
    • Liu, Lu;
    • Nikolopoulos, Georgios;
    • Smith, Claire E. L.;
    • Poulter, James A.;
    • Antanaviciute, Agne;
    • Rigby, Alice;
    • Balmer, Richard;
    • Brown, Catriona J.;
    • Patel, Anesha;
    • de Camargo, María Gabriela Acosta;
    • Rodd, Helen D.;
    • Moffat, Michelle;
    • Murillo, Gina;
    • Mudawi, Amal;
    • Jafri, Hussain;
    • Mighell, Alan J.;
    • Inglehearn, Chris F.;
    • Aziz, Aziz ur Rehman
    Publication type:
    Article
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    Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/2475635
    By:
    • Eichstaedt, Christina A.;
    • Maldonado-Velez, Gabriel;
    • Machado, Rajiv D.;
    • Gräf, Stefan;
    • Dooijes, Dennis;
    • Balachandar, Srimmitha;
    • Coulet, Florence;
    • Day, Kristina;
    • Eyries, Melanie;
    • Macaya, Daniela;
    • Shaukat, Memoona;
    • Southgate, Laura;
    • Tenorio-Castano, Jair;
    • Chung, Wendy K.;
    • Welch, Carrie L.;
    • Aldred, Micheala A.;
    • Chen, Jian-Min
    Publication type:
    Article
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    Management of Paediatric Cancers Associated With Bloom Syndrome.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7065233
    By:
    • Pacaud, Camille;
    • Nazon, Charlotte;
    • Pages, Mélanie;
    • Rouger, Jérémie;
    • Berthet, Pascale;
    • Winter, Sarah;
    • Thebault, Éric;
    • Faure-Conter, Cécile;
    • Berger, Claire;
    • Paillard, Catherine;
    • Macrae, Finlay
    Publication type:
    Article
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    A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6290620
    By:
    • Falkenstein, Kristina;
    • Hoeren, Lukas;
    • Kikul, Frauke;
    • Poschet, Gernot;
    • Lüchtenborg, Christian;
    • Brecht, Ines B.;
    • Falb, Ruth;
    • Gauck, Darja;
    • Haack, Tobias;
    • Hecker, Andreas;
    • Himmelreich, Nastassja;
    • Okun, Jürgen G.;
    • Brügger, Britta;
    • Thiel, Christian;
    • Aziz, Aziz ur Rehman.
    Publication type:
    Article
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    Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/3531508
    By:
    • Zanobio, Mariateresa;
    • Nardecchia, Francesca;
    • Cappuccio, Gerarda;
    • Onore, Maria Elena;
    • Di Letto, Pasquale;
    • Rahman, Sarah Iffat;
    • Terrone, Gaetano;
    • Ugga, Lorenzo;
    • De Giorgi, Agnese;
    • Cas, Michele Dei;
    • Trinchera, Marco;
    • Leuzzi, Vincenzo;
    • Piluso, Giulio;
    • Nigro, Vincenzo;
    • Brunetti-Pierri, Nicola;
    • Torella, Annalaura;
    • Aziz, Aziz ur Rehman
    Publication type:
    Article
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    Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599
    By:
    • Cordovado, Amélie;
    • Hérenger, Yvan;
    • Cormier, Coline;
    • López-Martín, Estrella;
    • Stamberger, Hannah;
    • Faivre, Laurence;
    • Denommé-Pichon, Anne-Sophie;
    • Vitobello, Antonio;
    • Abdallah, Hamza Hadj;
    • Barcia, Giulia;
    • Courtin, Thomas;
    • Martínez-Delgado, Beatriz;
    • Bermejo-Sánchez, Eva;
    • Barrero, María J.;
    • Gasser, Brooklynn;
    • Bezieau, Stéphane;
    • Küry, Sébastien;
    • Weckhuysen, Sarah;
    • Laumonnier, Frédéric;
    • Toutain, Annick
    Publication type:
    Article
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    High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/6382674
    By:
    • Sedghi, Maryam;
    • Gharehdaghi, Elika Esmaeilzadeh;
    • Ziaee, Vahid;
    • Abbasi, Farzaneh;
    • Meybodi, Hamid Reza Aghaei;
    • Smiley, Elina;
    • Mehdizadeh, Mehrzad;
    • Raeeskarami, Seyyed Reza;
    • Aslani, Nahid;
    • Shiran, Sahar Naderi;
    • Vafadar, Mehdi;
    • Amoli, Mahsa M.;
    • Aziz, Aziz ur Rehman
    Publication type:
    Article
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    Whole Genome Sequencing of "Mutation‐Negative" Individuals With Cornelia de Lange Syndrome.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/4711663
    By:
    • Ansari, Morad;
    • Halachev, Mihail;
    • Parry, David;
    • Campos, Jose L.;
    • D'Souza, Elston N.;
    • Barnett, Christopher;
    • Wilkie, Andrew O. M.;
    • Barnicoat, Angela;
    • Patel, Chirag V.;
    • Sukarova-Angelovska, Elena;
    • Girisha, Katta M.;
    • Firth, Helen V.;
    • Prescott, Katrina;
    • Wilson, Louise C.;
    • McEntagart, Meriel;
    • Davidson, Rosemarie;
    • Lynch, Sally Ann;
    • Joss, Shelagh;
    • Holden, Simon T.;
    • Lam, Wayne K.
    Publication type:
    Article