Results 241 to 250 of about 236,633 (310)

Complex <i>de novo</i> tetrasomy and trisomy of 2p22.2 involving <i>EIF2AK2</i> in a child with global developmental delay: a case report and literature review. [PDF]

Front Pediatr
Wang J, Duan X, Xu C, Song T, Shen D, Fang F.   +5 more
europepmc   +1 more source

A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization. [PDF]

Front Endocrinol (Lausanne)
Dvoryanchikov YV, Khusainova RI, Minniakhmetov IR, Salakhov RR, Smirnov KV, Ibragimova SA, Golodnikov II, Sechko EA, Dobreva EA, Mokrysheva NG.   +9 more
europepmc   +1 more source

GenotypeColour: a coloured way of visualising SNPs and CNVs

, 2009
BARLATI, Sergio, MAGRI, Chiara
core  

Genetics of familial acromegaly and pituitary gigantism.

J Clin Endocrinol Metab
De Sousa SMC, Daly AF.
europepmc   +1 more source

Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders

Kumar K, Liao Z, Kopal J, Moreau C, Ching C, Modenato C, Snyder W, Kazem S, Martin C, Belanger A, Fontaine V, Jizi K, Huguet G, Boen R, Kushan L, Silva A, Bree Mvd, Linden D, Owen M, Hall J, Lippé S, Dumas G, Draganski B, Almasy L, Thomopoulos S, Jahanshad N, Sønderby I, Andreassen O, Glahn D, Raznahan A, Bearden C, Paus T, Thompson P, Jacquemont S.   +33 more
europepmc   +1 more source