Works matching IS 00099163 AND DT 2015 AND VI 87 AND IP 3

Results: 16

Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 279, doi. 10.1111/cge.12357
By:
- Hasegawa, K.;
- Ohno, S.;
- Kimura, H.;
- Itoh, H.;
- Makiyama, T.;
- Yoshida, Y.;
- Horie, M.
Publication type:
Article
The revised ghent nosology; reclassifying isolated ectopia lentis.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 284, doi. 10.1111/cge.12358
By:
- Chandra, A.;
- Patel, D.;
- Aragon‐Martin, J.A.;
- Pinard, A.;
- Collod‐Béroud, G.;
- Comeglio, P.;
- Boileau, C.;
- Faivre, L.;
- Charteris, D.;
- Child, A.H.;
- Arno, G.
Publication type:
Article
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 293, doi. 10.1111/cge.12423
By:
- Córdoba, M.;
- Rodriguez, S.;
- González Morón, D.;
- Medina, N.;
- Kauffman, M.A.
Publication type:
Article
Platelets are not all gray in GFI1B disease.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 299, doi. 10.1111/cge.12424
By:
- Stevenson, W.S.;
- Morel‐Kopp, M.‐C.;
- Ward, C.M.
Publication type:
Article
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia ( rMED).
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 273, doi. 10.1111/cge.12371
By:
- Mäkitie, O.;
- Geiberger, S.;
- Horemuzova, E.;
- Hagenäs, L.;
- Moström, E.;
- Nordenskjöld, M.;
- Grigelioniene, G.;
- Nordgren, A.
Publication type:
Article
A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 266, doi. 10.1111/cge.12372
By:
- Kurashige, M.;
- Hanaoka, K.;
- Imamura, M.;
- Udagawa, T.;
- Kawaguchi, Y.;
- Hasegawa, T.;
- Hosoya, T.;
- Yokoo, T.;
- Maeda, S.
Publication type:
Article
Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 218, doi. 10.1111/cge.12415
By:
- Inglis, A.;
- Koehn, D.;
- McGillivray, B.;
- Stewart, S.E.;
- Austin, J.
Publication type:
Article
Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 225, doi. 10.1111/cge.12419
By:
- Boeldt, D.L.;
- Schork, N.J.;
- Topol, E.J.;
- Bloss, C.S.
Publication type:
Article
Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 288, doi. 10.1111/cge.12360
By:
- Szwiec, M.;
- Jakubowska, A.;
- Górski, B.;
- Huzarski, T.;
- Tomiczek‐Szwiec, J.;
- Gronwald, J.;
- Dębniak, T.;
- Byrski, T.;
- Kluźniak, W.;
- Wokołorczyk, D.;
- Birkenfeld, B.;
- Akbari, M.R.;
- Narod, S.A.;
- Lubiński, J.;
- Cybulski, C.
Publication type:
Article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 244, doi. 10.1111/cge.12361
By:
- Piard, J.;
- Aral, B.;
- Vabres, P.;
- Holder‐Espinasse, M.;
- Mégarbané, A.;
- Gauthier, S.;
- Capra, V.;
- Pierquin, G.;
- Callier, P.;
- Baumann, C.;
- Pasquier, L.;
- Baujat, G.;
- Martorell, L.;
- Rodriguez, A.;
- Brady, A. F.;
- Boralevi, F.;
- González‐Enseñat, M. A.;
- Rio, M.;
- Bodemer, C.;
- Philip, N.
Publication type:
Article
Phosphoserine phosphatase ( PSPH) gene mutation in an intellectual disability family from Pakistan.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 296, doi. 10.1111/cge.12445
By:
- Vincent, J.B.;
- Jamil, T.;
- Rafiq, M.A.;
- Anwar, Z.;
- Ayaz, M.;
- Hameed, A.;
- Nasr, T.;
- Naeem, F.;
- Khattak, N.A.;
- Carter, M.;
- Ahmed, I.;
- John, P.;
- Wiame, E.;
- Andrade, D.M.;
- Schaftingen, E.V.;
- Mir, A.;
- Ayub, M.
Publication type:
Article
Novel KDM6A ( UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome ( KS2).
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 252, doi. 10.1111/cge.12363
By:
- Banka, S.;
- Lederer, D.;
- Benoit, V.;
- Jenkins, E.;
- Howard, E.;
- Bunstone, S.;
- Kerr, B.;
- McKee, S.;
- Lloyd, I.C.;
- Shears, D.;
- Stewart, H.;
- White, S.M.;
- Savarirayan, R.;
- Mancini, G.M.S.;
- Beysen, D.;
- Cohn, R.D.;
- Grisart, B.;
- Maystadt, I.;
- Donnai, D.
Publication type:
Article
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 233, doi. 10.1111/cge.12366
By:
- Xiong, H.;
- Tan, D.;
- Wang, S.;
- Song, S.;
- Yang, H.;
- Gao, K.;
- Liu, A.;
- Jiao, H.;
- Mao, B.;
- Ding, J.;
- Chang, X.;
- Wang, J.;
- Wu, Y.;
- Yuan, Y.;
- Jiang, Y.;
- Zhang, F.;
- Wu, H.;
- Wu, X.
Publication type:
Article
Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 259, doi. 10.1111/cge.12400
By:
- Morales‐Briceño, H.;
- Chacón‐Camacho, O.F.;
- Pérez‐González, E.A.;
- Arteaga‐Vázquez, J.;
- Rodríguez‐Violante, M.;
- Cervantes‐Arriaga, A.;
- Pérez‐Rodríguez, L.;
- Zenteno, J.C.;
- Mutchinick, O.M.
Publication type:
Article
Interactive e-counselling for genetics pre-test decisions: where are we now?
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 209, doi. 10.1111/cge.12430
By:
- Birch, P.H.
Publication type:
Article
Ataxia telangiectasia: more variation at clinical and cellular levels.
Published in:
Clinical Genetics, 2015, v. 87, n. 3, p. 199, doi. 10.1111/cge.12453
By:
- Taylor, A.M.R.;
- Lam, Z.;
- Last, J.I.;
- Byrd, P.J.
Publication type:
Article