Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 11/12

Results: 11

Chromosome 18 gene dosage map 2.0.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 961, doi. 10.1007/s00439-018-1960-6
By:
- Cody, Jannine D.;
- Heard, Patricia;
- Rupert, David;
- Hasi-Zogaj, Minire;
- Hill, Annice;
- Sebold, Courtney;
- Hale, Daniel E.
Publication type:
Article
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 955, doi. 10.1007/s00439-018-1959-z
By:
- Lao, Qizong;
- Jardin, Marcia Des;
- Jayakrishnan, Rahul;
- Ernst, Monique;
- Merke, Deborah P.
Publication type:
Article
“Gardner and Sutherland’s chromosome abnormalities and genetic counseling” by R.J. McKinlay Gardner, David J. Amor. Oxford University Press.
Published in:
2018
By:
- Corrin, Sian
Publication type:
Book Review
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 941, doi. 10.1007/s00439-018-1958-0
By:
- Anand, Deepti;
- Kakrana, Atul;
- Siddam, Archana D.;
- Huang, Hongzhan;
- Saadi, Irfan;
- Lachke, Salil A.
Publication type:
Article
The RNA world of human ageing.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 865, doi. 10.1007/s00439-018-1955-3
By:
- Gomez-Verjan, J. C.;
- Vazquez-Martinez, E. R.;
- Rivero-Segura, N. A.;
- Medina-Campos, R. H.
Publication type:
Article
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 911, doi. 10.1007/s00439-018-1952-6
By:
- Vill, Katharina;
- Müller-Felber, Wolfgang;
- Gläser, Dieter;
- Kuhn, Marius;
- Teusch, Veronika;
- Schreiber, Herbert;
- Weis, Joachim;
- Klepper, Jörg;
- Schirmacher, Anja;
- Blaschek, Astrid;
- Wiessner, Manuela;
- Strom, Tim M.;
- Dräger, Bianca;
- Hofmeister-Kiltz, Kristina;
- Tacke, Moritz;
- Gerstl, Lucia;
- Young, Peter;
- Horvath, Rita;
- Senderek, Jan
Publication type:
Article
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 905, doi. 10.1007/s00439-018-1950-8
By:
- Shelihan, Ivan;
- Ehresmann, Sophie;
- Magnani, Cinzia;
- Forzano, Francesca;
- Baldo, Chiara;
- Brunetti-Pierri, Nicola;
- Campeau, Philippe M.
Publication type:
Article
Mixed Blessings from a Cambridge Union, Elizabeth N Anionwu.
Published in:
2018
By:
- Harper, Peter S.
Publication type:
Book Review
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 921, doi. 10.1007/s00439-018-1957-1
By:
- Lessel, Davor;
- Ozel, Ayse Bilge;
- Campbell, Susan E.;
- Saadi, Abdelkrim;
- Arlt, Martin F.;
- McSweeney, Keisha Melodi;
- Plaiasu, Vasilica;
- Szakszon, Katalin;
- Szőllős, Anna;
- Rusu, Cristina;
- Rojas, Armando J.;
- Lopez-Valdez, Jaime;
- Thiele, Holger;
- Nürnberg, Peter;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Li, Jun Z.;
- Kubisch, Christian;
- Glover, Thomas W.;
- Gordon, Leslie B.
Publication type:
Article
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 897, doi. 10.1007/s00439-018-1945-5
By:
- Yu, Xiaoning;
- Ping, Xiyuan;
- Zhang, Xin;
- Cui, Yilei;
- Yang, Hao;
- Tang, Xiajing;
- Tang, Yelei;
- Shentu, Xingchao
Publication type:
Article
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.
Published in:
Human Genetics, 2018, v. 137, n. 11/12, p. 881, doi. 10.1007/s00439-018-1942-8
By:
- Shah, Rupal L.;
- Guggenheim, Jeremy A.;
- UK Biobank Eye and Vision Consortium
Publication type:
Article