Works matching IS 14739542 AND DT 2024 AND VI 18 AND IP 1

Results: 129
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    Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00613-9
    By:
    • Sheth, Harsh;
    • Nair, Aadhira;
    • Bhavsar, Riddhi;
    • Kamate, Mahesh;
    • Gowda, Vykuntaraju K.;
    • Bavdekar, Ashish;
    • Kadam, Sandeep;
    • Nampoothiri, Sheela;
    • Panigrahi, Inusha;
    • Kaur, Anupriya;
    • Shah, Siddharth;
    • Mehta, Sanjeev;
    • Jagadeesan, Sujatha;
    • Suresh, Indrani;
    • Kapoor, Seema;
    • Bajaj, Shruti;
    • Devi, Radha Rama;
    • Prajapati, Ashka;
    • Godbole, Koumudi;
    • Patel, Harsh
    Publication type:
    Article
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    Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00604-w
    By:
    • Stenton, Sarah L.;
    • O'Leary, Melanie C.;
    • Lemire, Gabrielle;
    • VanNoy, Grace E.;
    • DiTroia, Stephanie;
    • Ganesh, Vijay S.;
    • Groopman, Emily;
    • O'Heir, Emily;
    • Mangilog, Brian;
    • Osei-Owusu, Ikeoluwa;
    • Pais, Lynn S.;
    • Serrano, Jillian;
    • Singer-Berk, Moriel;
    • Weisburd, Ben;
    • Wilson, Michael W.;
    • Austin-Tse, Christina;
    • Abdelhakim, Marwa;
    • Althagafi, Azza;
    • Babbi, Giulia;
    • Bellazzi, Riccardo
    Publication type:
    Article
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    The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00598-5
    By:
    • Mahdieh, Nejat;
    • Heidari, Morteza;
    • Rezaei, Zahra;
    • Tavasoli, Ali Reza;
    • Hosseinpour, Sareh;
    • Rasulinejad, Maryam;
    • Dehnavi, Ali Zare;
    • Ghahvechi Akbari, Masoud;
    • Badv, Reza Shervin;
    • Vafaei, Elahe;
    • Mohebbi, Ali;
    • Mohammadi, Pouria;
    • Hosseiny, Seyyed Mohammad Mahdi;
    • Azizimalamiri, Reza;
    • Nikkhah, Ali;
    • Pourbakhtyaran, Elham;
    • Rohani, Mohammad;
    • Khanbanha, Narges;
    • Nikbakht, Sedigheh;
    • Movahedinia, Mojtaba
    Publication type:
    Article
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    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00593-w
    By:
    • Koparir, Asuman;
    • Lekszas, Caroline;
    • Keseroglu, Kemal;
    • Rose, Thalia;
    • Rappl, Lena;
    • Rad, Aboulfazl;
    • Maroofian, Reza;
    • Narendran, Nakul;
    • Hasanzadeh, Atefeh;
    • Karimiani, Ehsan Ghayoor;
    • Boschann, Felix;
    • Kornak, Uwe;
    • Klopocki, Eva;
    • Özbudak, Ertuğrul M.;
    • Vona, Barbara;
    • Haaf, Thomas;
    • Liedtke, Daniel
    Publication type:
    Article
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    Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00576-x
    By:
    • Ünal, Pelin;
    • Lu, Ye;
    • Bueno-de-Mesquita, Bas;
    • van Eijck, Casper H. J.;
    • Talar-Wojnarowska, Renata;
    • Szentesi, Andrea;
    • Gazouli, Maria;
    • Kreivenaite, Edita;
    • Tavano, Francesca;
    • Małecka-Wojciesko, Ewa;
    • Erőss, Bálint;
    • Oliverius, Martin;
    • Bunduc, Stefania;
    • Nóbrega Aoki, Mateus;
    • Vodickova, Ludmila;
    • Boggi, Ugo;
    • Giaccherini, Matteo;
    • Kondrackiene, Jurate;
    • Chammas, Roger;
    • Palmieri, Orazio
    Publication type:
    Article
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    Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00579-8
    By:
    • Kiiski, Johanna I.;
    • Neuvonen, Mikko;
    • Kurkela, Mika;
    • Hirvensalo, Päivi;
    • Hämäläinen, Kreetta;
    • Tarkiainen, E. Katriina;
    • Sistonen, Johanna;
    • Korhonen, Mari;
    • Khan, Sofia;
    • Orpana, Arto;
    • Filppula, Anne M.;
    • Lehtonen, Marko;
    • Niemi, Mikko
    Publication type:
    Article
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