genotype

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107225; DOI: 10.1136/jmedgenet-2020-107225
Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107162; DOI: 10.1136/jmedgenet-2020-107162
Determinants of quality of life in Rett syndrome: new findings on associations with genotype
Jonathan Mendoza, Jenny Downs, Kingsley Wong, Helen Leonard

Journal of Medical Genetics Aug 2020, jmedgenet-2020-107120; DOI: 10.1136/jmedgenet-2020-107120
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
Sylvain Blanchon, Marie Legendre, Mathieu Bottier, Aline Tamalet, Guy Montantin, Nathalie Collot, Catherine Faucon, Florence Dastot, Bruno Copin, Annick Clement, Marcel Filoche, André Coste, Serge Amselem, Estelle Escudier, Jean-Francois Papon, Bruno Louis

Journal of Medical Genetics Apr 2020, 57 (4) 237-244; DOI: 10.1136/jmedgenet-2019-106424
Genetic Severity Score predicts clinical phenotype in NF2
Dorothy Halliday, Beatrice Emmanouil, Pieter Pretorius, Samuel MacKeith, Sally Painter, Helen Tomkins, D Gareth Evans, Allyson Parry

Journal of Medical Genetics Oct 2017, 54 (10) 657-664; DOI: 10.1136/jmedgenet-2017-104519

Log in using your username and password

Main menu

Log in using your username and password

You are here

genotype