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

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

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 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

“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

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