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3 research outputs found
An autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP) maps to chromosome 16 q12.2-21
Author
Basel-Vangaite L
Doheny K
+7Â more
Grant PE
Hong SE
Piao X
Pugh E
Shugart YY
Straussberg R
Walsh CA
Publication venue
Publication date
01/01/2002
Field of study
No full text
Explore Bristol Research
A novel L1CAM mutation in a fetus detected by prenatal diagnosis
Author
A Bateman
F Silan
+17Â more
Federico Matina
Gianfranca Damiani
Giovanni Corsello
L Basel-Vangaite
M Moos
M Yamasaki
Marco Fichera
Maria Cristina Jakil
Maria Piccione
Mariangela Lo Giudice
P Kallunki
S Kenwrick
S Takahashi
S Weller
T Kubota
U Finckh
V Ramensky
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Reduced penetrance in human inherited disease
Author
Abu-Safieh
Aganna
+93Â more
Agarwal
Al-Mulla
Antonion
Arnold
Austin
Azaiez
Badano
Baranov
Barbieri
Basel-Vangaite
Bassett
Benson
Beutler
Bolk
Boyle
Brennan
Buckland
Burden
Buscher
Carvill
Caspi
Chakravarti
Cheng
Cook
Cooper
Crotti
Davies
Daw
Dibbens
Ekvall
Emery
Fairly
Fairwether-Tait
Fechtel
Flanagan
Fraga
Frangolias
Fransen
Gabriel
Galatzka
Gershoni-Baruch
Girirazan
Grasmann
Hellman
Hoefele
Hung
Hunter
Jeri
Kajiwara
Ke
Khalid
Kilpelainen
Lobo
Mac Arthur
Marras
Mathias
Mckone
Menon
Michael
Montesanto
Muenke
Muller
Onadin
O’Gorman
Page
Panegyres
Pereira
Pitteloud
Riazuddin
Robinson
Ruiz-Martinez
Saini
Schaffer
Shawky
Shawky
Shawky
Shirahama
Sidransky
Snozek
Soriana
Stutzman
Thauvin - Robinet
Tripathi
Tropeano
Tyrrell
Van Sponsen
Vogel
Vytopil
Wirth
Wolff
Xue
Zhang
Zlotogora
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref