Works matching IS 10597794 AND DT 2022 AND VI 43 AND IP 4

Results: 11
    1
    2

    Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 511, doi. 10.1002/humu.24343
    By:
    • Waldrop, Megan A.;
    • Moore, Steven A.;
    • Mathews, Katherine D.;
    • Darbro, Benjamin W.;
    • Medne, Livja;
    • Finkel, Richard;
    • Connolly, Anne M.;
    • Crawford, Thomas O.;
    • Drachman, Daniel;
    • Wein, Nicolas;
    • Habib, Ali A.;
    • Krzesniak‐Swinarska, Monika A.;
    • Zaidman, Craig M.;
    • Collins, James J.;
    • Jokela, Manu;
    • Udd, Bjarne;
    • Day, John W.;
    • Ortiz‐Guerrero, Gloria;
    • Statland, Jeff;
    • Butterfield, Russell J.
    Publication type:
    Article
    3
    4
    5

    Issue Information.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 445, doi. 10.1002/humu.24226
    Publication type:
    Article
    6
    7

    Qatar genome: Insights on genomics from the Middle East.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 499, doi. 10.1002/humu.24336
    By:
    • Mbarek, Hamdi;
    • Devadoss Gandhi, Geethanjali;
    • Selvaraj, Senthil;
    • Al‐Muftah, Wadha;
    • Badji, Radja;
    • Al‐Sarraj, Yasser;
    • Saad, Chadi;
    • Darwish, Dima;
    • Alvi, Muhammad;
    • Fadl, Tasnim;
    • Yasin, Heba;
    • Alkuwari, Fatima;
    • Razali, Rozaimi;
    • Aamer, Waleed;
    • Abbaszadeh, Fatemeh;
    • Ahmed, Ikhlak;
    • Mokrab, Younes;
    • Suhre, Karsten;
    • Albagha, Omar;
    • Fakhro, Khalid
    Publication type:
    Article
    8

    Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 487, doi. 10.1002/humu.24333
    By:
    • Natera‐de Benito, Daniel;
    • Jurgens, Julie A.;
    • Yeung, Alison;
    • Zaharieva, Irina T.;
    • Manzur, Adnan;
    • DiTroia, Stephanie P.;
    • Di Gioia, Silvio Alessandro;
    • Pais, Lynn;
    • Pini, Veronica;
    • Barry, Brenda J.;
    • Chan, Wai‐Man;
    • Elder, James E.;
    • Christodoulou, John;
    • Hay, Eleanor;
    • England, Eleina M.;
    • Munot, Pinki;
    • Hunter, David G.;
    • Feng, Lucy;
    • Ledoux, Danielle;
    • O'Donnell‐Luria, Anne
    Publication type:
    Article
    9

    Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. 461, doi. 10.1002/humu.24332
    By:
    • Gofin, Yoel;
    • Wang, Tianyun;
    • Gillentine, Madelyn A.;
    • Scott, Tiana M.;
    • Berry, Aliska M.;
    • Azamian, Mahshid S.;
    • Genetti, Casie;
    • Agrawal, Pankaj B.;
    • Picker, Jonathan;
    • Wojcik, Monica H.;
    • Delgado, Mauricio R.;
    • Lynch, Sally A.;
    • Scherer, Stephen W.;
    • Howe, Jennifer L.;
    • Bacino, Carlos A.;
    • DiTroia, Stephanie;
    • VanNoy, Grace E.;
    • O'Donnell‐Luria, Anne;
    • Lalani, Seema R.;
    • Graf, William D.
    Publication type:
    Article
    10
    11

    Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion).

    Published in:
    Human Mutation, 2022, v. 43, n. 4, p. e1, doi. 10.1002/humu.24328
    By:
    • Ghaffari, Saeed R.;
    • Rafati, Maryam;
    • Shadnoush, Mahdi;
    • Pourbabaee, Shokooh;
    • Aghighi, Mohammad;
    • Mirab Samiee, Siamak;
    • Kermanchi, Jamshid;
    • Alaei, Mohammad R.;
    • Salehpour, Shadab;
    • Amirkashani, Davoud;
    • Setoodeh, Aria;
    • Sarkhail, Peymaneh;
    • Badv, Reza Shervin;
    • Aminzadeh, Majid;
    • Shiva, Siamak;
    • Eshraghi, Peyman;
    • Moravej, Hossein;
    • Hashemipour, Mahin;
    • Rostampour, Noushin;
    • Hamidieh, َAmir Ali
    Publication type:
    Article