DSpace@İnönü

Yazar "Jain, M" için listeleme

Yazar "Jain, M" için listeleme

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  • Bi-allelic variants in SPATA5L1 lead to intellectual disability, 
    Richard, EM; Bakhtiari, S; Marsh, APL; Kaiyrzhanov, R; Wagner, M; Shetty, S; Pagnozzi, A; Nordlie, SM; Guida, BS; Cornejo, P; Magee, H; Liu, J; Norton, BY; Webster, RI; Worgan, L; Hakonarson, H; Li, JK; Guo, YR; Jain, M; Blesson, A; Rodan, LH; Abbott, MA; Comi, A; Cohen, JS; Alhaddad, B; Meitinger, T; Lenz, D; Ziegler, A; Kotzaeridou, U; Brunet, T; Chassevent, A; Smith-Hicks, C; Ekstein, J; Weiden, T; Hahn, A; Zharkinbekova, N; Turnpenny, P; Tucci, A; Yelton, M; Horvath, R; Gungor, S; Hiz, S; Oktay, Y; Lochmuller, H; Zollino, M; ManuelaMorleo; Marangi, G; Nigro, V; Torella, A; Pinelli, M; Amenta, S; Husain, RA; Grossmann, B; Rapp, M; Steen, C; Marquardt, I; Grimmel, M; Grasshoff, U; Korenke, GC; Owczarek-Lipska, M; Neidhardt, J; Radio, FC; Mancini, C; Sepulveda, DJC; Mc Walter, K; Begtrup, A; Crunk, A; Sacoto, MJG; Person, R; Schnur, RE; Mancardi, MM; Kreuder, F; Striano, P; Zara, F; Chung, WK; Marks, WA; van Eyk, CL; Webber, DL; Corbett, MA; Harper, K; Berry, JG; Mac Lennan, AH; Gecz, J; Tartaglia, M; Salpietro, V; Christodoulou, J; Kaslin, J; Padilla-Lopez, S; Bilguvar, K; Munchau, A; Ahmed, ZM; Hufnagel, RB; Fahey, MC; Maroofian, R; Houlden, H; Sticht, H; Mane, SM (2021)
    Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals ...
  • Bi-allelic variants in SPATA5L1 lead to intellectual disability, 
    Richard, EM; Bakhtiari, S; Marsh, APL; Kaiyrzhanov, R; Wagner, M; Shetty, S; Pagnozzi, A; Nordlie, SM; Guida, BS; Cornejo, P; Magee, H; Liu, J; Norton, BY; Webster, RI; Worgan, L; Hakonarson, H; Li, JK; Guo, YR; Jain, M; Blesson, A; Rodan, LH; Abbott, MA; Comi, A; Cohen, JS; Alhaddad, B; Meitinger, T; Lenz, D; Ziegler, A; Kotzaeridou, U; Brunet, T; Chassevent, A; Smith-Hicks, C; Ekstein, J; Weiden, T; Hahn, A; Zharkinbekova, N; Turnpenny, P; Tucci, A; Yelton, M; Horvath, R; Gungor, S; Hiz, S; Oktay, Y; Lochmuller, H; Zollino, M; ManuelaMorleo; Marangi, G; Nigro, V; Torella, A; Pinelli, M; Amenta, S; Husain, RA; Grossmann, B; Rapp, M; Steen, C; Marquardt, I; Grimmel, M; Grasshoff, U; Korenke, GC; Owczarek-Lipska, M; Neidhardt, J; Radio, FC; Mancini, C; Sepulveda, DJC; Mc Walter, K; Begtrup, A; Crunk, A; Sacoto, MJG; Person, R; Schnur, RE; Mancardi, MM; Kreuder, F; Striano, P; Zara, F; Chung, WK; Marks, WA; van Eyk, CL; Webber, DL; Corbett, MA; Harper, K; Berry, JG; Mac Lennan, AH; Gecz, J; Tartaglia, M; Salpietro, V; Christodoulou, J; Kaslin, J; Padilla-Lopez, S; Bilguvar, K; Munchau, A; Ahmed, ZM; Hufnagel, RB; Fahey, MC; Maroofian, R; Houlden, H; Sticht, H; Mane, SM (2021)
    Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals ...