Catálogo de publicaciones - revistas
Clinical Genetics
Resumen/Descripción – provisto por la editorial en inglés
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.Palabras clave – provistas por la editorial
Clinical Genetics; CGE; genetics; molecular medicine; immunogenetics; medical genetics; gene express
Disponibilidad
| Institución detectada | Período | Navegá | Descargá | Solicitá |
|---|---|---|---|---|
| No detectada | desde ene. 1970 / hasta dic. 2023 | Wiley Online Library |
Información
Tipo de recurso:
revistas
ISSN impreso
0009-9163
ISSN electrónico
1399-0004
Editor responsable
John Wiley & Sons, Inc. (WILEY)
País de edición
Estados Unidos
Fecha de publicación
1970-
Cobertura temática
Tabla de contenidos
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
GM Altarescu; LG Goldfarb; K-Y Park; C Kaneski; N Jeffries; S Litvak; JW Nagle; R Schiffmann
Palabras clave: Genetics(clinical); Genetics.
Pp. 46-51
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
DR Langbehn; RR Brinkman; D Falush; JS Paulsen; MR Hayden;
Palabras clave: Genetics (clinical); Genetics.
Pp. 267-277
Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease
David A. Wenger; Cameron Clark; Martha Sattler; Candace Wharton
Palabras clave: Genetics(clinical); Genetics.
Pp. 145-153
doi: 10.1111/cge.12386
The kidney in Fabry's disease
A. Pisani; B. Visciano; M. Imbriaco; A. Di Nuzzi; A. Mancini; C. Marchetiello; E. Riccio
Pp. 301-309
doi: 10.1111/cge.12449
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance
B.E. Smid; C.E.M. Hollak; B.J.H.M. Poorthuis; M.A. van den Bergh Weerman; S. Florquin; W.E.M. Kok; R.H. Lekanne Deprez; J. Timmermans; G.E. Linthorst
Palabras clave: Genetics(clinical); Genetics.
Pp. 161-166
doi: 10.1111/cge.13537
Phenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review
Paola Castronovo; Marco Baccarin; Arianna Ricciardello; Chiara Picinelli; Pasquale Tomaiuolo; Francesca Cucinotta; Myriam Frittoli; Carla Lintas
; Roberto Sacco; Antonio M. Persico
Palabras clave: Genetics (clinical); Genetics.
Pp. 125-137
doi: 10.1111/cge.13694
Diagnostic strategy for females suspected of Fabry disease
Sukirthini Balendran; Petra Oliva; Stefaan Sansen; Thomas P. Mechtler; Berthold Streubel; Paulina N. Cobos; Zoltan Lukacs; David C. Kasper
Palabras clave: Genetics(clinical); Genetics.
Pp. 655-660
doi: 10.1111/cge.13682
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype
Giulia Pascolini; Emanuele Agolini; Antonio Novelli; Silvia Majore; Paola Grammatico
Pp. 672-674
doi: 10.1111/cge.13764
Next‐generation
sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability
Ange‐Line Bruel; Antonio Vitobello; Frédéric Tran Mau‐Them; Sophie Nambot; Arthur Sorlin; Anne‐Sophie Denommé‐Pichon; Julian Delanne; Sébastien Moutton; Patrick Callier; Yannis Duffourd; Christophe Philippe; Laurence Faivre; Christel Thauvin‐Robinet
Palabras clave: Genetics (clinical); Genetics.
Pp. 433-444
doi: 10.1111/cge.13936
Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing
Rocío Delarosa‐Rodríguez; José D. Santotoribio; Hernández‐Arévalo Paula; Antonio González‐Meneses; Salvador García‐Morillo; Pilar Jiménez‐Arriscado; Juan M. Guerrero; Hada C. Macher
Palabras clave: Genetics(clinical); Genetics.
Pp. No disponible