Search Results - "monogenism"

Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices by Vijaya Knight, Jennifer R. Heimall, Nicola Wright, Cullen M. Dutmer, Thomas G. Boyce, Troy R. Torgerson, Roshini S. Abraham

Connect to this object online.

Undifferentiated connective tissue dysplasia and respiratory diseases in children and adolescents (review of literature) by O.M. Voloshin, O.Yu. Chumak

Connect to this object online.

Folliculin mutations are not associated with severe COPD by Litonjua Augusto A, Klanderman Barbara J, Cho Michael H, Sparrow David, Silverman Edwin K, Raby Benjamin A

Connect to this object online.

Current Challenges in Cardiovascular Molecular Diagnostics by Carlo Napolitano

DOAB: download the publication
DOAB: description of the publication

Phenotypic screening in the 21st century by Birgit T. Priest

DOAB: download the publication
DOAB: description of the publication

Genetic Testing for Rare Diseases

DOAB: download the publication
DOAB: description of the publication

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism by Dennis Löffler, Susanne Behrendt, John W.M. Creemers, Jürgen Klammt, Gabriela Aust, Juraj Stanik, Wieland Kiess, Peter Kovacs, Antje Körner

Connect to this object online.

Structure of circulatory system diseases and their genetic predictors in athletes with high intensity of training and competitive load by A. V. Zholinsky, A. I. Kadykova, N. S. Gladyshev, M. V. Terekhov, A. A. Ivashechkin, V. V. Maksyutina, A. I. Nekrasova, S. I. Mitrofanov, M. V. Ivanov, D. A. Kashtanova, V. S. Yudin, A. A. Keskinov, S. M. Yudin, R. V. Deev, V. I. Skvortsova

Connect to this object online.

Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation by Peng Fan, Di Zhang, Xiao-Cheng Pan, Kun-Qi  Yang, Qiong-Yu Zhang, Yi-Ting Lu, Ying Zhang, Xue-Ying Liu, Wen-Jun Ma, Hui-Min Zhang, Lei Song, Jun Cai, Ya-Xin Liu, Xian-Liang Zhou

Connect to this object online.

Variants influencing age at diagnosis of HNF1A-MODY by Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Piotr Radkowski, Przemysław Kapusta, Julita Machlowska, Stepanka Pruhova, Daniela Gasperikova, Christine Bellanne-Chantelot, Andrew Hattersley, Balamurugan Kandasamy, Lisa Letourneau-Freiberg, Louis Philipson, Alessandro Doria, Paweł P. Wołkow, Maciej T. Małecki, Tomasz Klupa

Connect to this object online.

An international delphi survey for the definition of the variables for the development of new classification criteria for periodic fever aphtous stomatitis pharingitis cervical ade... by Federica Vanoni, Silvia Federici, Jordi Antón, Karyl S. Barron, Paul Brogan, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Veronique Hentgen, Tilmann Kallinich, Ronald Laxer, Ricardo Russo, Natasa Toplak, Yosef Uziel, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Michael Hofer, for Eurofever and the Paediatric Rheumatology International Trials Organisation (PRINTO)

Connect to this object online.

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report by Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko

Connect to this object online.

Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family by Jing Chen, Qinqin Xiang, Xiao Xiao, Bocheng Xu, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

Connect to this object online.

Typing TREX1 gene in patients with systemic lupus erythematosus by M. Fredi, M. Bianchi, L. Andreoli, G. Greco, I. Olivieri, S. Orcesi, E. Fazzi, C. Cereda, A. Tincani

Connect to this object online.

Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation by Liangliang Li, Zhi Yi, Hongmin Xi, Lili Ma, Hui Shao, Wenwen Wang, Hong Pan, Miaomiao Li, Hong Jiang

Connect to this object online.

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence by Emadeldin Hassanin, Isabel Spier, Dheeraj R. Bobbili, Rana Aldisi, Hannah Klinkhammer, Friederike David, Nuria Dueñas, Robert Hüneburg, Claudia Perne, Joan Brunet, Gabriel Capella, Markus M. Nöthen, Andreas J. Forstner, Andreas Mayr, Peter Krawitz, Patrick May, Stefan Aretz, Carlo Maj

Connect to this object online.

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart by Emilie Auxerre-Plantié, Tanja Nielsen, Marcel Grunert, Olga Olejniczak, Andreas Perrot, Cemil Özcelik, Dennis Harries, Faramarz Matinmehr, Cristobal Dos Remedios, Christian Mühlfeld, Theresia Kraft, Rolf Bodmer, Georg Vogler, Silke R. Sperling

Connect to this object online.

Effects of ranolazine on wild-type and mutant hNa_v1.7 channels and on DRG neuron excitability by Estacion Mark, Waxman Stephen G, Dib-Hajj Sulayman D

Connect to this object online.

Genetic Manipulation Strategies for β-Thalassemia: A Review by Nur Atikah Zakaria, Rosnah Bahar, Wan Zaidah Abdullah, Abdul Aziz Mohamed Yusoff, Shaharum Shamsuddin, Shaharum Shamsuddin, Shaharum Shamsuddin, Ridhwan Abdul Wahab, Muhammad Farid Johan

Connect to this object online.

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study by Reinthal Eva, Pasutto Francesca, Müller-Myhsok Bertram, Gramer Eugen, Wolf Christiane, Wissinger Bernd, Weisschuh Nicole

Connect to this object online.