Works matching IS 00099163 AND DT 2014 AND VI 85 AND IP 2

Results: 17

Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 120, doi. 10.1111/cge.12254
By:
- Sapp, J.C.;
- Dong, D.;
- Stark, C.;
- Ivey, L.E.;
- Hooker, G.;
- Biesecker, L.G.;
- Biesecker, B.B.
Publication type:
Article
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 194, doi. 10.1111/cge.12125
By:
- Feberwee, H.E.;
- Feenstra, I.;
- Oberoi, S.;
- Sama, I.E.;
- Ockeloen, C.W.;
- Clum, F.;
- Slavotinek, A.;
- Kuijpers, M.A.R.;
- Dooijes, D.;
- Kuijpers‐Jagtman, A.M.;
- Kleefstra, T.;
- Carels, C.E.L.
Publication type:
Article
Chromosomal microarray impacts clinical management.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 147, doi. 10.1111/cge.12107
By:
- Riggs, E.R.;
- Wain, K.E.;
- Riethmaier, D.;
- Smith‐Packard, B.;
- Faucett, W.A.;
- Hoppman, N.;
- Thorland, E.C.;
- Patel, V.C.;
- Miller, D.T.
Publication type:
Article
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 166, doi. 10.1111/cge.12118
By:
- Maselli, R.A.;
- Arredondo, J.;
- Nguyen, J.;
- Lara, M.;
- Ng, F.;
- Ngo, M.;
- Pham, J.M.;
- Yi, Q.;
- Stajich, J.M.;
- McDonald, K.;
- Hauser, M.A.;
- Wollmann, R.L.
Publication type:
Article
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 172, doi. 10.1111/cge.12129
By:
- M'hamdi, O.;
- Redin, C.;
- Stoetzel, C.;
- Ouertani, I.;
- Chaabouni, M.;
- Maazoul, F.;
- M'rad, R.;
- Mandel, J.L.;
- Dollfus, H.;
- Muller, J.;
- Chaabouni, H.
Publication type:
Article
A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 1, doi. 10.1111/cge.12356
By:
- Yan-Yan Ma;
- Tong-Fei Wu;
- Yu-Peng Liu;
- Qiao Wang;
- Xi-Yuan Li;
- Yuan Ding;
- Jin-Qing Song;
- Yan-Ling Yang;
- Li-Ping Zou
Publication type:
Article
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 138, doi. 10.1111/cge.12116
By:
- Nowaczyk, M.J.M.;
- Thompson, B.A.;
- Zeesman, S.;
- Moog, U.;
- Sanchez‐Lara, P.A.;
- Magoulas, P.L.;
- Falk, R.E.;
- Hoover‐Fong, J.E.;
- Batista, D.A.S.;
- Amudhavalli, S.M.;
- White, S.M.;
- Graham, G.E.;
- Rauen, K.A.
Publication type:
Article
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 154, doi. 10.1111/cge.12133
By:
- Bettencourt, C.;
- López‐Sendón, J.L.;
- García‐Caldentey, J.;
- Rizzu, P.;
- Bakker, I.M.C.;
- Shomroni, O.;
- Quintáns, B.;
- Dávila, J.R.;
- Bevova, M.R.;
- Sobrido, M.‐J.;
- Heutink, P.;
- de Yébenes, J.G.
Publication type:
Article
Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 159, doi. 10.1111/cge.12114
By:
- Magaña, J.J.;
- Tapia‐Guerrero, Y.S.;
- Velázquez‐Pérez, L.;
- Cerecedo‐Zapata, C.M.;
- Maldonado‐Rodríguez, M.;
- Jano‐Ito, J.S.;
- Leyva‐García, N.;
- González‐Piña, R.;
- Martínez‐Cruz, E.;
- Hernández‐Hernández, O.;
- Cisneros, B.
Publication type:
Article
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 201, doi. 10.1111/cge.12115
By:
- Cappuccio, G.;
- Ginocchio, V.M.;
- Maffè, A.;
- Ungari, S.;
- Andria, G.;
- Melis, D.
Publication type:
Article
Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 189, doi. 10.1111/cge.12120
By:
- Liu, Z.‐J.;
- Sun, Y.‐M.;
- Ni, W.;
- Dong, Y.;
- Shi, S.‐S.;
- Wu, Z.‐Y.
Publication type:
Article
Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 198, doi. 10.1111/cge.12128
By:
- Ngouprommin, L.;
- Sae‐ung, N.;
- Fucharoen, S.;
- Fucharoen, G.;
- Sanchaisuriya, K.;
- Jetsrisuparb, A.
Publication type:
Article
Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 184, doi. 10.1111/cge.12139
By:
- Cardoso, M.L.;
- Barbosa, M.;
- Serra, D.;
- Martins, E.;
- Fortuna, A.;
- Reis‐Lima, M.;
- Bandeira, A.;
- Balreira, A.;
- Marques, F.
Publication type:
Article
Making headway with genetic diagnostics of intellectual disabilities.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 101, doi. 10.1111/cge.12244
By:
- Willemsen, M.H.;
- Kleefstra, T.
Publication type:
Article
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 127, doi. 10.1111/cge.12112
By:
- Shibbani, K.;
- Fahed, A.C.;
- Al‐Shaar, L.;
- Arabi, M.;
- Nemer, G.;
- Bitar, F.;
- Majdalani, M.
Publication type:
Article
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 178, doi. 10.1111/cge.12141
By:
- Amrom, D.;
- Tanyalçin, I.;
- Verhelst, H.;
- Deconinck, N.;
- Brouhard, G.J.;
- Décarie, J.‐C.;
- Vanderhasselt, T.;
- Das, S.;
- Hamdan, F.F.;
- Lissens, W.;
- Michaud, J.L.;
- Jansen, A.C.
Publication type:
Article
Proteus syndrome review: molecular, clinical, and pathologic features.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 111, doi. 10.1111/cge.12266
By:
- Cohen, M. Michael
Publication type:
Article