L. Boccuto

Type de document

Co-auteur

L.J. Yin

L. Worgan

H. Van Esch

K. Tsuchiya

E. Torti

A.E. Timms

K. Tatton-Brown

R. Straussberg

F. Stewart

M. Stephan

J. Shendure

C. E. Schwartz

S. Saitta

J. Reggin

C.C. Pritchard

C. Prasad

M.E. Pierpont

K. Park

A.S. Parikh

M. Painter

C. Olds

O'Connor, B.C.

M. Napier

G. Mirzaa

M. Mckinnon

N. Martin

B. Martin

A. Lanoel

A.H. Lai

I. Krägeloh-Mann

M. Kircher

C.E. Keegan

H. Kayserilli

J. Juusola

R. Hennekam

R. Guerrini

K.W. Gripp

J. Graham

A. Goriely

I. Glass

K.M. Girisha

S. Ghedia

L. Garavelli

M. Gabbett

W.B. Dobyns

K. Devriendt

C. Curry

M. Cordisco

R.L. Conway

V. Conti

S. Collins

D. Chitayat

M. Carter

L. Burke

R. Bradshaw

S. Braddock

E.A. Boyle

M. Aracena

M.C. Addor

Date

Source

Serveur académique Lausannois (1)

Mot-clé

nourisson (1) tissu (corporel) (1) spectacle (1) association (1) mutation (1) littérature (1) inversion (1) distribution (1) mosaïque (1) pièce d'exposition (1) Testing (1) Methods (1) Phenotype (1) Testing (1) Social groups (1) Patients (1) Mosaicism (1) Human beings (1) Literature (1) Expression (1) Brain (1) Advent (1) Methods (1) Patients (1) Mutation (1) cohorte (1) corps (1) mosaïque (1) cerveau (1) nourrisson (1)

Documents écrit par L. Boccuto (1) | parle de L. Boccuto (0)

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

G. Mirzaa et al. (16 juin 2016)