Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 1

Results: 15

Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 1, doi. 10.1111/cge.12665
Publication type:
Article
Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 35, doi. 10.1111/cge.12731
By:
- Hervé, B.;
- Coussement, A.;
- Gilbert, T.;
- Dumont, F.;
- Jacques, S.;
- Cuisset, L.;
- Chicard, M.;
- Hizem, S.;
- Bourdoncle, P.;
- Letourneur, F.;
- Dupont, C.;
- Vialard, F.;
- Choiset, A.;
- Dupont, J.‐M.
Publication type:
Article
Genetics of human Bardet-Biedl syndrome, an updates.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 3, doi. 10.1111/cge.12737
By:
- Khan, S.A.;
- Muhammad, N.;
- Khan, M.A.;
- Kamal, A.;
- Rehman, Z.U.;
- Khan, S.
Publication type:
Article
Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes - a mini review.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 16, doi. 10.1111/cge.12755
By:
- Basit, S.;
- Hannan, M. A.;
- Khoshhal, K. I.
Publication type:
Article
Fetal growth patterns in Beckwith-Wiedemann syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 21, doi. 10.1111/cge.12759
By:
- Mussa, A.;
- Russo, S.;
- de Crescenzo, A.;
- Freschi, A.;
- Calzari, L.;
- Maitz, S.;
- Macchiaiolo, M.;
- Molinatto, C.;
- Baldassarre, G.;
- Mariani, M.;
- Tarani, L.;
- Bedeschi, M.F.;
- Milani, D.;
- Melis, D.;
- Bartuli, A.;
- Cubellis, M.V.;
- Selicorni, A.;
- Silengo, M.C.;
- Larizza, L.;
- Riccio, A.
Publication type:
Article
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 84, doi. 10.1111/cge.12707
By:
- Ekhilevitch, N.;
- Kurolap, A.;
- Oz‐Levi, D.;
- Mory, A.;
- Hershkovitz, T.;
- Ast, G.;
- Mandel, H.;
- Baris, H.N.
Publication type:
Article
Origin of mutation in sporadic cases of severe haemophilia A in Sweden.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 63, doi. 10.1111/cge.12709
By:
- Mårtensson, A.;
- Ivarsson, S.;
- Letelier, A.;
- Manderstedt, E.;
- Halldén, C.;
- Ljung, R.
Publication type:
Article
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 99, doi. 10.1111/cge.12725
By:
- Mujezinović, F;
- Krgović, D;
- Blatnik, A;
- Zagradišnik, B;
- Vipotnik, TV;
- Golec, TČ;
- Tul, N;
- Vokač, N Kokalj
Publication type:
Article
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 28, doi. 10.1111/cge.12675
By:
- Leslie, E.J.;
- Koboldt, D.C.;
- Kang, C.J.;
- Ma, L.;
- Hecht, J.T.;
- Wehby, G.L.;
- Christensen, K.;
- Czeizel, A.E.;
- Deleyiannis, F.W.‐B.;
- Fulton, R.S.;
- Wilson, R.K.;
- Beaty, T.H.;
- Schutte, B.C.;
- Murray, J.C.;
- Marazita, M.L.
Publication type:
Article
Relevance of truncating titin mutations in dilated cardiomyopathy.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 49, doi. 10.1111/cge.12741
By:
- Akinrinade, O.;
- Alastalo, T.‐P.;
- Koskenvuo, J.W.
Publication type:
Article
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 69, doi. 10.1111/cge.12749
By:
- Park, J.;
- Jeong, D.‐C.;
- Yoo, J.;
- Jang, W.;
- Chae, H.;
- Kim, J.;
- Kwon, A.;
- Choi, H.;
- Lee, J.W.;
- Chung, N.‐G.;
- Kim, M.;
- Kim, Y.
Publication type:
Article
JP-HHT phenotype in Danish patients with SMAD4 mutations.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 55, doi. 10.1111/cge.12693
By:
- Jelsig, A. M.;
- Tørring, P. M.;
- Kjeldsen, A. D.;
- Qvist, N.;
- Bojesen, A.;
- Jensen, U. B.;
- Andersen, M. K.;
- Gerdes, A. M.;
- Brusgaard, K.;
- Ousager, L. B.
Publication type:
Article
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 90, doi. 10.1111/cge.12694
By:
- Waryah, A. M.;
- Shahzad, M.;
- Shaikh, H.;
- Sheikh, S. A.;
- Channa, N. A.;
- Hufnagel, R. B.;
- Makhdoom, A.;
- Riazuddin, S.;
- Ahmed, Z. M.
Publication type:
Article
Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 79, doi. 10.1111/cge.12697
By:
- Braun, J.J.;
- Noblet, V.;
- Kremer, S.;
- Molière, S.;
- Dollfus, H.;
- Marion, V.;
- Goetz, N.;
- Muller, J.;
- Riehm, S.
Publication type:
Article
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 96, doi. 10.1111/cge.12715
By:
- Khan, A. O.;
- Tamimi, M.;
- Lenzner, S.;
- Bolz, H. J.
Publication type:
Article