|
|
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Sophie Nambot
,
Julien Thévenon
,
Paul Kuentz
,
Yannis Duffourd
,
Emilie Tisserant
et al.
Article dans une revue
hal-01635326v1
|
Partager
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Stéphanie Bauché
,
Seana O’regan
,
Yoshiteru Azuma
,
Fanny Laffargue
,
Grace Mcmacken
et al.
Article dans une revue
hal-03993840v1
|
Partager
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome
Floriane Limoge
,
Laurence Faivre
,
Thomas Gautier
,
Jean-Michel Petit
,
Elodie Gautier
et al.
Article dans une revue
hal-01595306v1
|
Partager
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Cohen syndrome is associated with major glycosylation defects
Laurence Duplomb
,
Sandrine Duvet
,
Damien Picot
,
Gaetan Jego
,
Salima El Chehadeh-Djebbar
et al.
Article dans une revue
hal-01687667v1
|
Partager
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
Aurélie Bourchany
,
Christel Thauvin-Robinet
,
Daphne Lehalle
,
Ange-Line Bruel
,
Paul Masurel-Paulet
et al.
Article dans une revue
hal-01626052v1
|
Partager
Gmail
Facebook
Twitter
LinkedIn
More
|