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Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 183, doi. 10.1038/jhg.2015.4
By:
- Sosoi, Simona;
- Streata, Ioana;
- Tudorache, Stefania;
- Burada, Florin;
- Siminel, Mirela;
- Cernea, Nicolae;
- Ioana, Mihai;
- Iliescu, Dominic Gabriel;
- Mixich, Francisc
Publication type:
Article
Genetic diversity of disease-associated loci in Turkish population.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 193, doi. 10.1038/jhg.2015.8
By:
- Karaca, Sefayet;
- Cesuroglu, Tomris;
- Karaca, Mehmet;
- Erge, Sema;
- Polimanti, Renato
Publication type:
Article
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 207, doi. 10.1038/jhg.2015.1
By:
- Santos-Rebouças, Cíntia Barros;
- de Almeida, Luciana Guedes;
- Belet, Stefanie;
- dos Santos, Suely Rodrigues;
- Ribeiro, Márcia Gonçalves;
- da Silva, Antônio Francisco Alves;
- Medina-Acosta, Enrique;
- dos Santos, Jussara Mendonça;
- Gonçalves, Andressa Pereira;
- Bahia, Paulo Roberto Valle;
- Pimentel, Márcia Mattos Gonçalves;
- Froyen, Guy
Publication type:
Article
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 167, doi. 10.1038/jhg.2015.5
By:
- Tohyama, Jun;
- Nakashima, Mitsuko;
- Nabatame, Shin;
- Gaik-Siew, Ch'ng;
- Miyata, Rie;
- Rener-Primec, Zvonka;
- Kato, Mitsuhiro;
- Matsumoto, Naomichi;
- Saitsu, Hirotomo
Publication type:
Article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
By:
- Kunii, Misako;
- Doi, Hiroshi;
- Higashiyama, Yuichi;
- Kugimoto, Chiharu;
- Ueda, Naohisa;
- Hirata, Junichi;
- Tomita-Katsumoto, Atsuko;
- Kashikura-Kojima, Mari;
- Kubota, Shun;
- Taniguchi, Midori;
- Murayama, Kei;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Miyake, Noriko;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi;
- Tanaka, Fumiaki
Publication type:
Article
How should the legal framework for the protection of human genomic data be formulated?-Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act).
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 225, doi. 10.1038/jhg.2014.121
By:
- Yamamoto, Natsuko;
- Kawashima, Minae;
- Fujita, Takanori;
- Suzuki, Masatomo;
- Kato, Kazuto
Publication type:
Article
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 221, doi. 10.1038/jhg.2015.6
By:
- Imbard, Apolline;
- Pasmant, Eric;
- Sabbagh, Audrey;
- Luscan, Armelle;
- Soares, Magali;
- Goussard, Philippe;
- Blanché, Hélène;
- Laurendeau, Ingrid;
- Ferkal, Salah;
- Vidaud, Michel;
- Pinson, Stéphane;
- Bellanne-Chantelot, Christine;
- Vidaud, Dominique;
- Wolkenstein, Pierre;
- Parfait, Béatrice
Publication type:
Article
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 213, doi. 10.1038/jhg.2015.2
By:
- Seo, Jieun;
- Choi, In-Ho;
- Lee, Je Sang;
- Yoo, Yongjin;
- Kim, Nayoung KD;
- Choi, Murim;
- Ko, Jung Min;
- Shin, Yong Beom
Publication type:
Article
Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 217, doi. 10.1038/jhg.2015.3
By:
- Koh, Kishin;
- Kobayashi, Fumikazu;
- Miwa, Michiaki;
- Shindo, Kazumasa;
- Isozaki, Eiji;
- Ishiura, Hiroyuki;
- Tsuji, Shoji;
- Takiyama, Yoshihisa
Publication type:
Article
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124
By:
- Miyatake, Satoko;
- Koshimizu, Eriko;
- Fujita, Atsushi;
- Fukai, Ryoko;
- Imagawa, Eri;
- Ohba, Chihiro;
- Kuki, Ichiro;
- Nukui, Megumi;
- Araki, Atsushi;
- Makita, Yoshio;
- Ogata, Tsutomu;
- Nakashima, Mitsuko;
- Tsurusaki, Yoshinori;
- Miyake, Noriko;
- Saitsu, Hirotomo;
- Matsumoto, Naomichi
Publication type:
Article
Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 203, doi. 10.1038/jhg.2014.123
By:
- Hayashi, Shin;
- Yagi, Mariko;
- Morisaki, Ichijiro;
- Inazawa, Johji
Publication type:
Article
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
Published in:
Journal of Human Genetics, 2015, v. 60, n. 4, p. 199, doi. 10.1038/jhg.2014.122
By:
- Sergouniotis, Panagiotis I;
- Urquhart, Jill E;
- Williams, Simon G;
- Bhaskar, Sanjeev S;
- Black, Graeme C;
- Lovell, Simon C;
- Whitby, David J;
- Newman, William G;
- Clayton-Smith, Jill
Publication type:
Article

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