Works matching IS 00099163 AND DT 2018 AND VI 94 AND IP 3/4

Results: 21

Issue Information ‐ Editorial Board.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 281, doi. 10.1111/cge.13433
Publication type:
Article
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 381, doi. 10.1111/cge.13410
By:
- Pilch, Jacek;
- Koppolu, Agnieszka A.;
- Walczak, Anna;
- Murcia Pienkowski, Victor A.;
- Biernacka, Anna;
- Skiba, Paweł;
- Machnik‐Broncel, Joanna;
- Gasperowicz, Piotr;
- Kosińska, Joanna;
- Rydzanicz, Małgorzata;
- Emich‐Widera, Ewa;
- Płoski, Rafał
Publication type:
Article
IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 373, doi. 10.1111/cge.13409
By:
- Brischoux‐Boucher, E.;
- Trimouille, A.;
- Baujat, G.;
- Goldenberg, A.;
- Schaefer, E.;
- Guichard, B.;
- Hannequin, P.;
- Paternoster, G.;
- Baer, S.;
- Cabrol, C.;
- Weber, E.;
- Godfrin, G.;
- Lenoir, M.;
- Lacombe, D.;
- Collet, C.;
- Van Maldergem, L.
Publication type:
Article
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 368, doi. 10.1111/cge.13408
By:
- Moran, J.;
- G. Sanderson, K.;
- Maynes, J.;
- Vig, A.;
- Batmanabane, V.;
- Kannu, P.;
- Tavares, E.;
- Vincent, A.;
- Héon, E.
Publication type:
Article
Corrigendum.
Published in:
2018
By:
- Sharma, A.;
- Stei, M. M.;
- Fröhlich, H.;
- Holz, F. G.;
- Loeffler, K. U.;
- Herwig‐Carl, M. C.
Publication type:
Correction Notice
A novel homozygous frame‐shift variant in the LHCGR gene is associated with primary ovarian insufficiency in a Pakistani family.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 396, doi. 10.1111/cge.13406
By:
- Zielen, A. C.;
- Khan, M. J.;
- Pollock, N.;
- Jiang, H.;
- Ahmed, J.;
- Nazli, R.;
- Jabeen, M.;
- Yatsenko, A.;
- Rajkovic, A.
Publication type:
Article
The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 339, doi. 10.1111/cge.13405
By:
- Ruskey, J. A.;
- Zhou, S.;
- Santiago, R.;
- Franche, L.‐A.;
- Alam, A.;
- Roncière, L.;
- Spiegelman, D.;
- Fon, E. A.;
- Trempe, J.‐F.;
- Kalia, L. V.;
- Postuma, R. B.;
- Dupre, N.;
- Rivard, G.‐E.;
- Assouline, S.;
- Amato, D.;
- Gan‐Or, Z.
Publication type:
Article
Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 330, doi. 10.1111/cge.13392
By:
- Geerlings, M. J.;
- Volokhina, E. B.;
- de Jong, E. K.;
- van de Kar, N.;
- Pauper, M.;
- Hoyng, C. B.;
- van den Heuvel, L. P.;
- den Hollander, A. I.
Publication type:
Article
How do consent forms for diagnostic high‐throughput sequencing address unsolicited and secondary findings? A content analysis.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 321, doi. 10.1111/cge.13391
By:
- Vears, D. F.;
- Niemiec, E.;
- Howard, H. C.;
- Borry, P.
Publication type:
Article
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 356, doi. 10.1111/cge.13390
By:
- Hengel, H.;
- Keimer, R.;
- Deigendesch, W.;
- Rieß, A.;
- Marzouqa, H.;
- Zaidan, J.;
- Bauer, P.;
- Schöls, L.
Publication type:
Article
Enrichment of rare copy number variation in children with developmental language disorder.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 313, doi. 10.1111/cge.13389
By:
- Kalnak, N.;
- Stamouli, S.;
- Peyrard‐Janvid, M.;
- Rabkina, I.;
- Becker, M.;
- Klingberg, T.;
- Kere, J.;
- Forssberg, H.;
- Tammimies, K.
Publication type:
Article
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 303, doi. 10.1111/cge.13388
By:
- Ito, Y. A.;
- Smith, A. C.;
- Kernohan, K. D.;
- Pena, I. A.;
- Ahmed, A.;
- McDonell, L. M.;
- Beaulieu, C.;
- Bulman, D. E.;
- Smidt, A.;
- Sawyer, S. L.;
- Care4Rare Canada Consortium;
- Dyment, D. A.;
- Boycott, K. M.;
- Clericuzio, C. L.
Publication type:
Article
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 351, doi. 10.1111/cge.13387
By:
- Suleiman, J.;
- Al Hashem, A. M.;
- Tabarki, B.;
- Al‐Thihli, K.;
- Bi, W.;
- El‐Hattab, A. W.
Publication type:
Article
A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 393, doi. 10.1111/cge.13386
By:
- Yavuz, H.;
- Bertoli‐Avella, A. M.;
- Alfadhel, M.;
- Al‐Sannaa, N.;
- Kandaswamy, K. K.;
- Al‐Tuwaijri, W.;
- Rolfs, A.;
- Brandau, O.;
- Bauer, P.
Publication type:
Article
PRUNE1‐related disorder: Expanding the clinical spectrum.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 362, doi. 10.1111/cge.13385
By:
- Imagawa, E.;
- Yamamoto, Y.;
- Mitsuhashi, S.;
- Isidor, B.;
- Fukuyama, T.;
- Kato, M.;
- Sasaki, M.;
- Tanabe, S.;
- Miyatake, S.;
- Mizuguchi, T.;
- Takata, A.;
- Miyake, N.;
- Matsumoto, N.
Publication type:
Article
Genome‐wide compound heterozygosity analysis highlighted 4 novel susceptibility loci for congenital heart disease in Chinese population.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 296, doi. 10.1111/cge.13384
By:
- Jiang, T.;
- Huang, M.;
- Gu, Y.;
- Wang, Y.;
- Wu, Y.;
- Ma, H.;
- Jin, G.;
- Dai, J.;
- Hu, Z.
Publication type:
Article
Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 346, doi. 10.1111/cge.13380
By:
- Almaguer‐Mederos, L. E.;
- Mesa, J. M. L.;
- González‐Zaldívar, Y.;
- Almaguer‐Gotay, D.;
- Cuello‐Almarales, D.;
- Aguilera‐Rodríguez, R.;
- Falcón, N. S.;
- Gispert, S.;
- Auburger, G.;
- Velázquez‐Pérez, L.
Publication type:
Article
Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.
Published in:
2018
By:
- Okazaki, T.;
- Saito, Y.;
- Hayashida, T.;
- Akaboshi, S.;
- Miyake, N.;
- Matsumoto, N.;
- Kasagi, N.;
- Adachi, K.;
- Shinohara, Y.;
- Nanba, E.;
- Maegaki, Y.
Publication type:
Case Study
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 389, doi. 10.1111/cge.13377
By:
- Jih, K.‐Y.;
- Chung, C.‐P.;
- Chang, Y.‐Y.;
- Hung, P.‐L.;
- Soong, B.‐W.;
- Liao, Y.‐C.;
- Lan, M.‐Y.;
- Lee, Y.‐C.
Publication type:
Article
Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 386, doi. 10.1111/cge.13364
By:
- Ricotti, R.;
- Nardo, T.;
- Striano, P.;
- Stefanini, M.;
- Orioli, D.;
- Botta, E.
Publication type:
Article
Unraveling molecular pathways shared by Kabuki and Kabuki‐like syndromes.
Published in:
Clinical Genetics, 2018, v. 94, n. 3/4, p. 283, doi. 10.1111/cge.12983
By:
- Lintas, C.;
- Persico, A. M.
Publication type:
Article