Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 11

Results: 19
    1

    Cover, Volume 41, Issue 11.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. i, doi. 10.1002/humu.24131
    By:
    • Chivukula, Aparna S.;
    • Suslova, Mariia;
    • Kortzak, Daniel;
    • Kovermann, Peter;
    • Fahlke, Christoph
    Publication type:
    Article
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    Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1999, doi. 10.1002/humu.24109
    By:
    • Simmons, Roxanne L.;
    • Li, Haiyan;
    • Alten, Baris;
    • Santos, Magda S.;
    • Jiang, Ruiji;
    • Paul, Brianna;
    • Lalani, Sanam J.;
    • Cortesi, Audrey;
    • Parks, Kendall;
    • Khandelwal, Nitin;
    • Smith‐Packard, Bethany;
    • Phoong, Malay A.;
    • Chez, Michael;
    • Fisher, Heather;
    • Scheuerle, Angela E.;
    • Shinawi, Marwan;
    • Hussain, Shaun A.;
    • Kavalali, Ege T.;
    • Sherr, Elliott H.;
    • Voglmaier, Susan M.
    Publication type:
    Article
    6

    Cytogenetically visible inversions are formed by multiple molecular mechanisms.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1979, doi. 10.1002/humu.24106
    By:
    • Pettersson, Maria;
    • Grochowski, Christopher M.;
    • Wincent, Josephine;
    • Eisfeldt, Jesper;
    • Breman, Amy M.;
    • Cheung, Sau W.;
    • Krepischi, Ana C. V.;
    • Rosenberg, Carla;
    • Lupski, James R.;
    • Ottosson, Jesper;
    • Lovmar, Lovisa;
    • Gacic, Jelena;
    • Lundberg, Elisabeth S.;
    • Nilsson, Daniel;
    • Carvalho, Claudia M. B.;
    • Lindstrand, Anna
    Publication type:
    Article
    7
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    Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1833, doi. 10.1002/humu.24102
    By:
    • Narang, Ankita;
    • Uppilli, Bharathram;
    • Vivekanand, Asokachandran;
    • Naushin, Salwa;
    • Yadav, Arti;
    • Singhal, Khushboo;
    • Shamim, Uzma;
    • Sharma, Pooja;
    • Zahra, Sana;
    • Mathur, Aradhana;
    • Seth, Malika;
    • Parveen, Shaista;
    • Vats, Archana;
    • Hillman, Sara;
    • Dolma, Padma;
    • Varma, Binuja;
    • Jain, Vandana;
    • Prasher, Bhavana;
    • Sengupta, Shantanu;
    • Mukerji, Mitali
    Publication type:
    Article
    10

    Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1884, doi. 10.1002/humu.24101
    By:
    • Akesson, Lauren S.;
    • Bournazos, Adam;
    • Fennell, Andrew;
    • Krzesinski, Emma I.;
    • Tan, Kenneth;
    • Springer, Amanda;
    • Rose, Katherine;
    • Goranitis, Ilias;
    • Francis, David;
    • Lee, Crystle;
    • Faiz, Fathimath;
    • Davis, Mark R.;
    • Christodoulou, John;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Hunter, Matthew F.;
    • Cooper, Sandra T.
    Publication type:
    Article
    11
    12

    Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1906, doi. 10.1002/humu.24097
    By:
    • MacKenzie, Katherine C.;
    • Graaf, Bianca M.;
    • Syrimis, Andreas;
    • Zhao, Yuying;
    • Brosens, Erwin;
    • Mancini, Grazia M. S.;
    • Schot, Rachel;
    • Halley, Dicky;
    • Wilke, Martina;
    • Vøllo, Arve;
    • Flinter, Frances;
    • Green, Andrew;
    • Mansour, Sahar;
    • Pilch, Jacek;
    • Stark, Zornitza;
    • Zamba‐Papanicolaou, Eleni;
    • Christophidou‐Anastasiadou, Violetta;
    • Hofstra, Robert M. W.;
    • Jongbloed, Jan D. H.;
    • Nicolaou, Nayia
    Publication type:
    Article
    13

    Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1931, doi. 10.1002/humu.24096
    By:
    • Gaertner, Anna;
    • Klauke, Baerbel;
    • Felski, Elina;
    • Kassner, Astrid;
    • Brodehl, Andreas;
    • Gerdes, Désirée;
    • Stanasiuk, Caroline;
    • Ebbinghaus, Hans;
    • Schulz, Uwe;
    • Dubowy, Karl‐Otto;
    • Tiesmeier, Jens;
    • Laser, Kai‐Thorsten;
    • Bante, Hendrik;
    • Bergau, Leonard;
    • Sommer, Philipp;
    • Fox, Henrik;
    • Morshuis, Michiel;
    • Gummert, Jan;
    • Milting, Hendrik
    Publication type:
    Article
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    Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1918, doi. 10.1002/humu.24092
    By:
    • Bhar, Saleh;
    • Zhou, Fujun;
    • Reineke, Lucas C.;
    • Morris, Danna K.;
    • Khincha, Payal P.;
    • Giri, Neelam;
    • Mirabello, Lisa;
    • Bergstrom, Katie;
    • Lemon, Laramie D.;
    • Williams, Christopher L.;
    • Toh, Yukimatsu;
    • Elghetany, M. Tarek;
    • Lloyd, Richard E.;
    • Alter, Blanche P.;
    • Savage, Sharon A.;
    • Bertuch, Alison A.
    Publication type:
    Article
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    Issue Information.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1831, doi. 10.1002/humu.23815
    Publication type:
    Article